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CHECKORPHAN
CheckOrphan. Study: Cardiac MRI Effective in Detecting Asymptomatic, Symptomatic Myocarditis in Athletes. Extensive Lymph Node, Node Station Dissection Recommended in Pure-Solid NSCLC. SELLAS Life Sciences Announces USPTO Decision to Grant New Patent for Galinpepimut-S in Combination with Checkpoint Inhibitor Therapies. CHROMOSOME 19- TRISOMY 19Q The list of signs and symptoms mentioned in various sources for Chromosome 19q, partial duplication includes the 41 symptoms listed below: * Mental retardation * Poor physical development * Reduced muscle tone * Microbrachycephaly * Wide open sutures * Down slanting space between eyelids * Widely spaced eyes * Drooping upper eyelid *Short nose
REED’S SYNDROME
Reed’s syndrome (also known as Hereditary leiomyomatosis and renal cell cancer (HLRCC), multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL)) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, theuterus.
ALDOLASE A DEFICIENCY Aldolase A deficiency is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A, which is found predominantly in muscle and red blood cells. It may lead to myopathy, exercise intolerance and rhabdomyolysis associated with hemolyticanaemia.
DUHRING’S DISEASE
Overview. (Duhring's disease is aka " Dermatitis herpetiformis ", "Duhring Brocq disease") Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters. The ingestion of gluten (from wheat, rye, and barley) triggers an immune system response that deposits a POLYCYSTIC KIDNEY DISEASE- TYPE 1 Polycystic kidney disease type 1, aslo known as autosomal dominant polycystic kidney disease: A rare condition where cysts in the kidney grow and cause the kidney to become larger and reduce it's ability to function. PKD 1 is an autosomal dominant form of the disease and differs from PKD 2 in that it is more severe and is caused by amutation
HYPERADRENALISM
Hyperadrenalism (medical condition): Excessive levels of adrenal hormones in the body. Symptoms depend on which hormone is involved and the degree of involvement. Adrenal hormones are aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine. HEMORRHAGIC THROMBOCYTHEMIA (ESSENTIAL Symptoms. The list of signs and symptoms mentioned in various sources for Hemorrhagic thrombocythemia includes the 18 symptoms listed below: * Spontaneous bleeding * Coughing up blood * Melena * Menorrhagia * Anemia * Increased platelets * Nosebleed * Easy bleeding * Gastrointestinal tract bleeding * Peripheral vascular ischemia * Pulmonary emboli * Deep vein thrombosis * Digital ischemia PHILADELPHIA-NEGATIVE CHRONIC MYELOID LEUKEMIA Philadelphia-negative chronic myeloid leukemia is a slow-developing cancer of the bone marrow and blood in which the body produces an uncontrolled number of abnormal white blood cells. More than 90% of cases result from a cytogenetic aberration known as the Philadelphia chromosome (Philadelphia-positive chronic myeloid leukemia).FOLLICULAR LYMPHOMA
Follicular lymphoma (FL) is the most common of non-Hodgkin's lymphomas accounting for approximately 20 percent to 30 percent of all non-Hodgkin's lymphoma. It is defined as a lymphoma of follicle center B-cells (centrocytes and centroblasts), which has at least a partially follicular pattern. It is positive for the B-cell markers CD10, CD19CHECKORPHAN
CheckOrphan. Study: Cardiac MRI Effective in Detecting Asymptomatic, Symptomatic Myocarditis in Athletes. Extensive Lymph Node, Node Station Dissection Recommended in Pure-Solid NSCLC. SELLAS Life Sciences Announces USPTO Decision to Grant New Patent for Galinpepimut-S in Combination with Checkpoint Inhibitor Therapies. CHROMOSOME 19- TRISOMY 19Q The list of signs and symptoms mentioned in various sources for Chromosome 19q, partial duplication includes the 41 symptoms listed below: * Mental retardation * Poor physical development * Reduced muscle tone * Microbrachycephaly * Wide open sutures * Down slanting space between eyelids * Widely spaced eyes * Drooping upper eyelid *Short nose
REED’S SYNDROME
Reed’s syndrome (also known as Hereditary leiomyomatosis and renal cell cancer (HLRCC), multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL)) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, theuterus.
ALDOLASE A DEFICIENCY Aldolase A deficiency is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A, which is found predominantly in muscle and red blood cells. It may lead to myopathy, exercise intolerance and rhabdomyolysis associated with hemolyticanaemia.
DUHRING’S DISEASE
Overview. (Duhring's disease is aka " Dermatitis herpetiformis ", "Duhring Brocq disease") Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters. The ingestion of gluten (from wheat, rye, and barley) triggers an immune system response that deposits a POLYCYSTIC KIDNEY DISEASE- TYPE 1 Polycystic kidney disease type 1, aslo known as autosomal dominant polycystic kidney disease: A rare condition where cysts in the kidney grow and cause the kidney to become larger and reduce it's ability to function. PKD 1 is an autosomal dominant form of the disease and differs from PKD 2 in that it is more severe and is caused by amutation
HYPERADRENALISM
Hyperadrenalism (medical condition): Excessive levels of adrenal hormones in the body. Symptoms depend on which hormone is involved and the degree of involvement. Adrenal hormones are aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine. HEMORRHAGIC THROMBOCYTHEMIA (ESSENTIAL Symptoms. The list of signs and symptoms mentioned in various sources for Hemorrhagic thrombocythemia includes the 18 symptoms listed below: * Spontaneous bleeding * Coughing up blood * Melena * Menorrhagia * Anemia * Increased platelets * Nosebleed * Easy bleeding * Gastrointestinal tract bleeding * Peripheral vascular ischemia * Pulmonary emboli * Deep vein thrombosis * Digital ischemia PHILADELPHIA-NEGATIVE CHRONIC MYELOID LEUKEMIA Philadelphia-negative chronic myeloid leukemia is a slow-developing cancer of the bone marrow and blood in which the body produces an uncontrolled number of abnormal white blood cells. More than 90% of cases result from a cytogenetic aberration known as the Philadelphia chromosome (Philadelphia-positive chronic myeloid leukemia).FOLLICULAR LYMPHOMA
Follicular lymphoma (FL) is the most common of non-Hodgkin's lymphomas accounting for approximately 20 percent to 30 percent of all non-Hodgkin's lymphoma. It is defined as a lymphoma of follicle center B-cells (centrocytes and centroblasts), which has at least a partially follicular pattern. It is positive for the B-cell markers CD10, CD19 INITIAL CORRECTION KERATOCONUS Initial Correction Keratoconus Transepithelial (Epi-on) Corneal Collagen Crosslinking to Treat Keratoconus and Corneal Ectasia Corneal Collagen Crosslinking for Keratoconus and Ectasia Using Riboflavin/Dextran or Riboflavin/Methylcellulose Gamma-Irradiated Corneal Inlay for Keratoconus Transepithelial Customized Cross-linking The Effect of Mitomycin C on Corneal Haze and Scarring IMPACT OF AUDITORY STIMULATION IN EATING PLEASURE (EDERE Impact of Auditory Stimulation in Eating Pleasure (EDERE 2021) Evaluation of the Impact of Cochlear Implants on Cognition in Older Adults Computer-Based Auditory Rehabilitation Evaluating Hearing Aid Service Delivery Models At-home Auditory Training Clinical Trial Use of Hearing Aids. Development and Implementation of a Counselling Program for Hearing Aid Users Variability In LONGITUDINAL STUDY FOR RELAPSING POLYCHONDRITIS Brief Summary Relapsing polychondritis (RP) is a rare systemic inflammatory disease characterized by recurrent inflammation of cartilage including ears, MIDLINE FIELD DEFECTS Symptoms. The list of signs and symptoms mentioned in various sources for Midline field defects includes the 26 symptoms listed below: * Facial cleft * Cleft lip * Cleft palate * Heart murmur * Septal defect * Ventricular defect * Congenital heart defect * Hypospadias * Hydrocephalus * Anencephaly * Abnormal kidney development * Spina bifida * Meningocele * Meningomyelocele * NOXXON ANNOUNCES POSITIVE RESULTS FROM SECOND COHORT IN BERLIN, Germany – NOXXON Pharma N.V. (Paris:ALNOX) (Euronext Growth Paris: ALNOX), a biotechnology company focused on improving cancer treatments by targeting the tumor microenvironment (TME), announced today positive results from the second cohort in its Phase 1/2 study of NOX-A12 in combination with radiotherapy in patients with brain cancer (Glioblastoma Multiforme). CROSSOVER RELATIVE BIOAVAILABILITY AND DOSE ESCALATION Maintenance Niraparib and Dostarlimab in Advanced Cholangiocarcinoma A Phase I Study of WM-S1-030 in Patients With Advanced Solid Tumors Niraparib Combined With Anlotinib in Homologous Recombination Repair (HRR) Gene-mutated Advanced Solid Tumors The Comparison of Miniinvasive and Open Pancreaticoduodenectomy for Cancer Pancreaticobiliary Zone Crossover NEW DATA AT CURE SMA 2021 HIGHLIGHT THE LONG-TERM EFFICACY CAMBRIDGE, Mass. – Biogen Inc. (Nasdaq: BIIB) today announced new research supporting the continued development of an investigational higher dose of SPINRAZA® (nusinersen) and additional data reinforcing the strength of SPINRAZA’s clinical profile in improving the lives of individuals with spinal muscular atrophy (SMA) over the long term. NEW GENENTECH DATA FOR EVRYSDI (RISDIPLAM) SHOW IMPROVED New Genentech Data for Evrysdi (risdiplam) Show Improved Motor Function in Pre-Symptomatic Babies After One Year and Confirm Safety Profile in Previously Treated People With Spinal Muscular Atrophy(SMA)
MITOMICS : A MULTI-OMICS APPROACH FOR THE DIAGNOSIS OF MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease An Intermediate Size Expanded Access Protocol of Elamipretide Drug-drug Interaction Study of KL1333 in Healthy Subjects Clinical Study of QUALITY OF LIFE IN VAGINAL APLASIA PATIENTS AFTER DAVYDOV Quality of Life in Vaginal Aplasia Patients After Davydov Procedure Penn Uterine Transplantation for Uterine Factor Infertility Trial Uterus Transplantation From Live Donors and From Deceased Donors – Clinical Study Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome Feasibility Study of Uterine Transplantation From Living Donors in Terms of Efficacy and Safety inCHECKORPHAN
CORAL GABLES, Fla. – Catalyst Pharmaceuticals, Inc. (“Catalyst”) (Nasdaq: CPRX), a commercial-stage, patient-centric biopharmaceutical company focused on in-licensing, developing and commercializing novel high-quality medicines for patients living with rare diseases, and KYE Pharmaceuticals Inc. (“KYE”), a private company headquartered in Mississauga, Ontario and focused on bringing POLYCYSTIC KIDNEY DISEASE- TYPE 1 Overview. Polycystic kidney disease type 1, aslo known as autosomal dominant polycystic kidney disease: A rare condition where cysts in the kidney grow and cause the kidney to become larger and reduce it's ability to function.PKD 1 is an autosomal dominant form of the disease and differs from PKD 2 in that it is more severe and is caused by a mutation in a different geneDUHRING’S DISEASE
Overview (Duhring's disease is aka "Dermatitis herpetiformis", "Duhring Brocq disease")Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters.FOLLICULAR LYMPHOMA
Overview. Follicular lymphoma (FL) is the most common of non-Hodgkin's lymphomas accounting for approximately 20 percent to 30 percent of all non-Hodgkin's lymphoma.It is defined as a lymphoma of follicle center B-cells (centrocytes and centroblasts), which HEMORRHAGIC THROMBOCYTHEMIA (ESSENTIAL Symptoms. The list of signs and symptoms mentioned in various sources for Hemorrhagic thrombocythemia includes the 18 symptoms listed below: * Spontaneous bleeding * Coughing up blood * Melena * Menorrhagia * Anemia * Increased platelets * Nosebleed * Easy bleeding * Gastrointestinal tract bleeding * Peripheral vascular ischemia * Pulmonary emboli * Deep vein thrombosis * Digital ischemia PHILADELPHIA-NEGATIVE CHRONIC MYELOID LEUKEMIA Overview. Philadelphia-negative chronic myeloid leukemia is a slow-developing cancer of the bone marrow and blood in which the body produces an uncontrolled number of MOERSCH-WOLTMAN CONDITION Overview. Moersch-Woltman Condition/Syndrome has also been refered to as: Stiff-Person-Syndrome or Stiff-Man Syndrome (SMS). Stiff-man Syndrome is a rare disease of severe progressive muscle stiffness of the spine and lower extremities with superimposed muscle spasms triggered by external stimuli or emotional stress. CHEMO ALONE OR IN COMBINATION WITH RADIATION IN A Phase I Study of WM-S1-030 in Patients With Advanced Solid Tumors Niraparib Combined With Anlotinib in Homologous Recombination Repair (HRR) Gene-mutated Advanced Solid Tumors The Comparison of Miniinvasive and Open Pancreaticoduodenectomy for Cancer Pancreaticobiliary Zone Crossover Relative Bioavailability and Dose Escalation Study of TT-00420 Tablet in Patients With CHROMOSOME 18- DELETION 18Q23 Overview. Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss andmental retardation.
NANDROLONE DECANOATE CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan andneglected diseases.
CHECKORPHAN
CORAL GABLES, Fla. – Catalyst Pharmaceuticals, Inc. (“Catalyst”) (Nasdaq: CPRX), a commercial-stage, patient-centric biopharmaceutical company focused on in-licensing, developing and commercializing novel high-quality medicines for patients living with rare diseases, and KYE Pharmaceuticals Inc. (“KYE”), a private company headquartered in Mississauga, Ontario and focused on bringing POLYCYSTIC KIDNEY DISEASE- TYPE 1 Overview. Polycystic kidney disease type 1, aslo known as autosomal dominant polycystic kidney disease: A rare condition where cysts in the kidney grow and cause the kidney to become larger and reduce it's ability to function.PKD 1 is an autosomal dominant form of the disease and differs from PKD 2 in that it is more severe and is caused by a mutation in a different geneDUHRING’S DISEASE
Overview (Duhring's disease is aka "Dermatitis herpetiformis", "Duhring Brocq disease")Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters.FOLLICULAR LYMPHOMA
Overview. Follicular lymphoma (FL) is the most common of non-Hodgkin's lymphomas accounting for approximately 20 percent to 30 percent of all non-Hodgkin's lymphoma.It is defined as a lymphoma of follicle center B-cells (centrocytes and centroblasts), which HEMORRHAGIC THROMBOCYTHEMIA (ESSENTIAL Symptoms. The list of signs and symptoms mentioned in various sources for Hemorrhagic thrombocythemia includes the 18 symptoms listed below: * Spontaneous bleeding * Coughing up blood * Melena * Menorrhagia * Anemia * Increased platelets * Nosebleed * Easy bleeding * Gastrointestinal tract bleeding * Peripheral vascular ischemia * Pulmonary emboli * Deep vein thrombosis * Digital ischemia PHILADELPHIA-NEGATIVE CHRONIC MYELOID LEUKEMIA Overview. Philadelphia-negative chronic myeloid leukemia is a slow-developing cancer of the bone marrow and blood in which the body produces an uncontrolled number of MOERSCH-WOLTMAN CONDITION Overview. Moersch-Woltman Condition/Syndrome has also been refered to as: Stiff-Person-Syndrome or Stiff-Man Syndrome (SMS). Stiff-man Syndrome is a rare disease of severe progressive muscle stiffness of the spine and lower extremities with superimposed muscle spasms triggered by external stimuli or emotional stress. CHEMO ALONE OR IN COMBINATION WITH RADIATION IN A Phase I Study of WM-S1-030 in Patients With Advanced Solid Tumors Niraparib Combined With Anlotinib in Homologous Recombination Repair (HRR) Gene-mutated Advanced Solid Tumors The Comparison of Miniinvasive and Open Pancreaticoduodenectomy for Cancer Pancreaticobiliary Zone Crossover Relative Bioavailability and Dose Escalation Study of TT-00420 Tablet in Patients With CHROMOSOME 18- DELETION 18Q23 Overview. Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss andmental retardation.
NANDROLONE DECANOATE CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan andneglected diseases.
DUHRING’S DISEASE
Overview (Duhring's disease is aka "Dermatitis herpetiformis", "Duhring Brocq disease")Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters. NOXXON ANNOUNCES POSITIVE RESULTS FROM SECOND COHORT IN BERLIN, Germany – NOXXON Pharma N.V. (Paris:ALNOX) (Euronext Growth Paris: ALNOX), a biotechnology company focused on improving cancer treatments by targeting the tumor microenvironment (TME), announced today positive results from the second cohort in its Phase 1/2 study of NOX-A12 in combination with radiotherapy in patients with brain cancer (Glioblastoma Multiforme). MOTOR NEURONS DERIVED FROM PATIENTS POINT TO NEW POSSIBLE BOSTON – Amyotrophic lateral sclerosis (ALS) is a severe, fatal neurodegenerative disorder causing loss of motor neurons and voluntarymuscle action.
NEW DATA AT CURE SMA 2021 HIGHLIGHT THE LONG-TERM EFFICACY CAMBRIDGE, Mass. – Biogen Inc. (Nasdaq: BIIB) today announced new research supporting the continued development of an investigational higher dose of SPINRAZA® (nusinersen) and additional data reinforcing the strength of SPINRAZA’s clinical profile in improving the lives of individuals with spinal muscular atrophy (SMA) over the long term. DUAL TASK TRAINING FOR CEREBELLAR ATAXIA Chronic Cough and CANVAS (Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome) Dual Task Training for Cerebellar Ataxia Cerebellar rTMS and Physical Therapy for Cerebellar Ataxia Mindfulness Meditation for Subjects With Severe Speech and Physical Impairments The Role of Cerebellum in Speech Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low NEW GENENTECH DATA FOR EVRYSDI (RISDIPLAM) SHOW IMPROVED New Genentech Data for Evrysdi (risdiplam) Show Improved Motor Function in Pre-Symptomatic Babies After One Year and Confirm Safety Profile in Previously Treated People With Spinal Muscular Atrophy(SMA)
BERGENBIO RECEIVES FAST TRACK DESIGNATION BerGenBio has announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for bemcentinib in combination with an anti-PD-(L)1 agent for the treatment of patients with AXL-positive advanced/metastatic non-small cell lung cancer(NSCLC).
OSIMERTINIB VS AFATINIB FOR NSCLC AFTER EGFR-TKI TREATMENT Compared with afatinib, treatment with osimertinib demonstrates better survival outcomes for patients with T790M-positive non-small cell lung cancer (NSCLC) that does not initially respond to initial epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI), according to study results published in BMC Pulmonary Medicine. GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE DEFICIENCY Overview. Glyceraldehyde-3-phosphate dehydrogenase deficiency: A rare genetic syndrome characterized by a deficiency of an enzyme (Glyceraldehyde-3-phosphate dehydrogenase) which is involved in breaking down carbohydrates consumed in the diet in order to produceenergy.
VERTEX ANNOUNCES U.S. FDA APPROVAL FOR TRIKAFTA Vertex Announces U.S. FDA Approval for TRIKAFTA® (elexacaftor/tezacaftor/ivacaftor and ivacaftor) in Children With Cystic Fibrosis Ages 6 through 11 With CertainCHECKORPHAN
CheckOrphan. Study: Cardiac MRI Effective in Detecting Asymptomatic, Symptomatic Myocarditis in Athletes. Extensive Lymph Node, Node Station Dissection Recommended in Pure-Solid NSCLC. SELLAS Life Sciences Announces USPTO Decision to Grant New Patent for Galinpepimut-S in Combination with Checkpoint Inhibitor Therapies. CHROMOSOME 19- TRISOMY 19Q The list of signs and symptoms mentioned in various sources for Chromosome 19q, partial duplication includes the 41 symptoms listed below: * Mental retardation * Poor physical development * Reduced muscle tone * Microbrachycephaly * Wide open sutures * Down slanting space between eyelids * Widely spaced eyes * Drooping upper eyelid *Short nose
DUHRING’S DISEASE
Overview. (Duhring's disease is aka " Dermatitis herpetiformis ", "Duhring Brocq disease") Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters. The ingestion of gluten (from wheat, rye, and barley) triggers an immune system response that deposits aFOLLICULAR LYMPHOMA
Overview. Follicular lymphoma (FL) is the most common of non-Hodgkin's lymphomas accounting for approximately 20 percent to 30 percent of all non-Hodgkin's lymphoma.It is defined as a lymphoma of follicle center B-cells (centrocytes and centroblasts), whichREED’S SYNDROME
Reed’s syndrome (also known as Hereditary leiomyomatosis and renal cell cancer (HLRCC), multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL)) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, theuterus.
HEMORRHAGIC THROMBOCYTHEMIA (ESSENTIAL Symptoms. The list of signs and symptoms mentioned in various sources for Hemorrhagic thrombocythemia includes the 18 symptoms listed below: * Spontaneous bleeding * Coughing up blood * Melena * Menorrhagia * Anemia * Increased platelets * Nosebleed * Easy bleeding * Gastrointestinal tract bleeding * Peripheral vascular ischemia * Pulmonary emboli * Deep vein thrombosis * Digital ischemia PHILADELPHIA-NEGATIVE CHRONIC MYELOID LEUKEMIA Philadelphia-negative chronic myeloid leukemia is a slow-developing cancer of the bone marrow and blood in which the body produces an uncontrolled number of abnormal white blood cells. More than 90% of cases result from a cytogenetic aberration known as the Philadelphia chromosome (Philadelphia-positive chronic myeloid leukemia). MOERSCH-WOLTMAN CONDITION Moersch-Woltman Condition/Syndrome has also been refered to as: Stiff-Person-Syndrome or Stiff-Man Syndrome (SMS). Stiff-man Syndrome is a rare disease of severe progressive muscle stiffness of the spine and lower extremities with superimposed muscle spasms triggered by external stimuli or emotional stress. Typically symptoms begin betweenthe
CHROMOSOME 18- DELETION 18Q23 Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient. NANDROLONE DECANOATE CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan andneglected diseases.
CHECKORPHAN
CheckOrphan. Study: Cardiac MRI Effective in Detecting Asymptomatic, Symptomatic Myocarditis in Athletes. Extensive Lymph Node, Node Station Dissection Recommended in Pure-Solid NSCLC. SELLAS Life Sciences Announces USPTO Decision to Grant New Patent for Galinpepimut-S in Combination with Checkpoint Inhibitor Therapies. CHROMOSOME 19- TRISOMY 19Q The list of signs and symptoms mentioned in various sources for Chromosome 19q, partial duplication includes the 41 symptoms listed below: * Mental retardation * Poor physical development * Reduced muscle tone * Microbrachycephaly * Wide open sutures * Down slanting space between eyelids * Widely spaced eyes * Drooping upper eyelid *Short nose
DUHRING’S DISEASE
Overview. (Duhring's disease is aka " Dermatitis herpetiformis ", "Duhring Brocq disease") Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters. The ingestion of gluten (from wheat, rye, and barley) triggers an immune system response that deposits aFOLLICULAR LYMPHOMA
Overview. Follicular lymphoma (FL) is the most common of non-Hodgkin's lymphomas accounting for approximately 20 percent to 30 percent of all non-Hodgkin's lymphoma.It is defined as a lymphoma of follicle center B-cells (centrocytes and centroblasts), which HEMORRHAGIC THROMBOCYTHEMIA (ESSENTIAL Symptoms. The list of signs and symptoms mentioned in various sources for Hemorrhagic thrombocythemia includes the 18 symptoms listed below: * Spontaneous bleeding * Coughing up blood * Melena * Menorrhagia * Anemia * Increased platelets * Nosebleed * Easy bleeding * Gastrointestinal tract bleeding * Peripheral vascular ischemia * Pulmonary emboli * Deep vein thrombosis * Digital ischemiaREED’S SYNDROME
Reed’s syndrome (also known as Hereditary leiomyomatosis and renal cell cancer (HLRCC), multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL)) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, theuterus.
PHILADELPHIA-NEGATIVE CHRONIC MYELOID LEUKEMIA Philadelphia-negative chronic myeloid leukemia is a slow-developing cancer of the bone marrow and blood in which the body produces an uncontrolled number of abnormal white blood cells. More than 90% of cases result from a cytogenetic aberration known as the Philadelphia chromosome (Philadelphia-positive chronic myeloid leukemia). MOERSCH-WOLTMAN CONDITION Moersch-Woltman Condition/Syndrome has also been refered to as: Stiff-Person-Syndrome or Stiff-Man Syndrome (SMS). Stiff-man Syndrome is a rare disease of severe progressive muscle stiffness of the spine and lower extremities with superimposed muscle spasms triggered by external stimuli or emotional stress. Typically symptoms begin betweenthe
CHROMOSOME 18- DELETION 18Q23 Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient. NANDROLONE DECANOATE CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan andneglected diseases.
NEW GENE THERAPY METHODS FIGHT RARE DISEASES CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan andneglected diseases.
NOVARTIS KYMRIAH® PIVOTAL TRIAL DEMONSTRATES STRONG Basel – Novartis today announced robust data from the primary analysis of the pivotal Phase II ELARA trial of Kymriah® (tisagenlecleucel) in patients with relapsed or refractory (r/r) follicular lymphoma (FL). NOVARTIS ANNOUNCES IPTACOPAN MET PHASE II STUDY PRIMARY Basel – Novartis today announced Phase II primary endpoint data showing investigational iptacopan (LNP023) – a first-in-class, oral, targeted factor B inhibitor – reduced protein in the urine (proteinuria), an increasingly recognized surrogate marker correlating with progression to kidney failure, and showed promise in stabilizing kidney function in patients with IgA nephropathy (IgAN CHARACTERISTICS OF INFANTS, TODDLERS WITH VON WILLEBRAND Diagnosing von Willebrand disease (VWD) in children younger than 2 is challenging, and data on this population is limited. However, recent research published in Blood Advances has found that infants and toddlers with VWD often have a family history of the disease and experience bleeding within the first year of life. PREDICTORS OF FAILED PSEUDOMONAS AERUGINOSA ERADICATION IN Pseudomonas aeruginosa infections were found to be a risk factor for failed eradication therapy in patients with cystic fibrosis who are resistant to neutrophil antibacterial functions, according to the results of a study published in The Journal of Infectious Diseases. BROOKLYN FAMILY HELPS FOUR-YEAR-OLD SON FIGHT RARE DISEASE BROOKLYN, Mich. – Full of life and full of love. That’s who four year-old Jaxon Meschke is. “All my friends! I love mom. I love dad and baby brother,” said four-year old Jaxon. CANCER TREATMENT CENTERS OF AMERICA ATLANTA LAUNCHES WOMEN ATLANTA – Cancer Treatment Centers of America® (CTCA) Atlanta has launched its Women’s Cancer Center, led by an experienced roster of fellowship-trained, board-certified physicians and clinicians with expertise in breast and gynecologic oncology. INTELLIA THERAPEUTICS TO PRESENT INTERIM CLINICAL DATA CAMBRIDGE, Mass. – Intellia Therapeutics, Inc.(NASDAQ:NTLA) today announced that a late-breaking abstract featuring interim Phase 1 clinical data from NTLA-2001, the Company’s lead CRISPR/Cas9 in vivo therapy in development as a single-dose, systemically administered treatment for transthyretin (ATTR) amyloidosis, has been selected for an oral presentation at the 2021 Peripheral KITE’S TECARTUS® DEMONSTRATES HIGH RESPONSE RATE IN ADULTS SANTA MONICA, Calif. – Kite, a Gilead Company (Nasdaq: GILD), announced today results from the primary analysis of ZUMA-3, a global, multicenter, single-arm, open-label Phase 1/2 study evaluating its chimeric antigen receptor (CAR) T-cell therapy Tecartus® (brexucabtagene autoleucel) in adult patients with relapsed or refractory B-cell precursor acute lymphoblastic leukemia (ALL). GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE DEFICIENCY Overview. Glyceraldehyde-3-phosphate dehydrogenase deficiency: A rare genetic syndrome characterized by a deficiency of an enzyme (Glyceraldehyde-3-phosphate dehydrogenase) which is involved in breaking down carbohydrates consumed in the diet in order to produceenergy.
CHECKORPHAN
CheckOrphan. Study: Cardiac MRI Effective in Detecting Asymptomatic, Symptomatic Myocarditis in Athletes. Extensive Lymph Node, Node Station Dissection Recommended in Pure-Solid NSCLC. SELLAS Life Sciences Announces USPTO Decision to Grant New Patent for Galinpepimut-S in Combination with Checkpoint Inhibitor Therapies. CHROMOSOME 19- TRISOMY 19Q The list of signs and symptoms mentioned in various sources for Chromosome 19q, partial duplication includes the 41 symptoms listed below: * Mental retardation * Poor physical development * Reduced muscle tone * Microbrachycephaly * Wide open sutures * Down slanting space between eyelids * Widely spaced eyes * Drooping upper eyelid *Short nose
DUHRING’S DISEASE
Overview. (Duhring's disease is aka " Dermatitis herpetiformis ", "Duhring Brocq disease") Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters. The ingestion of gluten (from wheat, rye, and barley) triggers an immune system response that deposits aFOLLICULAR LYMPHOMA
Overview. Follicular lymphoma (FL) is the most common of non-Hodgkin's lymphomas accounting for approximately 20 percent to 30 percent of all non-Hodgkin's lymphoma.It is defined as a lymphoma of follicle center B-cells (centrocytes and centroblasts), whichREED’S SYNDROME
Reed’s syndrome (also known as Hereditary leiomyomatosis and renal cell cancer (HLRCC), multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL)) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, theuterus.
HEMORRHAGIC THROMBOCYTHEMIA (ESSENTIAL Symptoms. The list of signs and symptoms mentioned in various sources for Hemorrhagic thrombocythemia includes the 18 symptoms listed below: * Spontaneous bleeding * Coughing up blood * Melena * Menorrhagia * Anemia * Increased platelets * Nosebleed * Easy bleeding * Gastrointestinal tract bleeding * Peripheral vascular ischemia * Pulmonary emboli * Deep vein thrombosis * Digital ischemia PHILADELPHIA-NEGATIVE CHRONIC MYELOID LEUKEMIA Philadelphia-negative chronic myeloid leukemia is a slow-developing cancer of the bone marrow and blood in which the body produces an uncontrolled number of abnormal white blood cells. More than 90% of cases result from a cytogenetic aberration known as the Philadelphia chromosome (Philadelphia-positive chronic myeloid leukemia). MOERSCH-WOLTMAN CONDITION Moersch-Woltman Condition/Syndrome has also been refered to as: Stiff-Person-Syndrome or Stiff-Man Syndrome (SMS). Stiff-man Syndrome is a rare disease of severe progressive muscle stiffness of the spine and lower extremities with superimposed muscle spasms triggered by external stimuli or emotional stress. Typically symptoms begin betweenthe
CHROMOSOME 18- DELETION 18Q23 Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient. NANDROLONE DECANOATE CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan andneglected diseases.
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CheckOrphan. Study: Cardiac MRI Effective in Detecting Asymptomatic, Symptomatic Myocarditis in Athletes. Extensive Lymph Node, Node Station Dissection Recommended in Pure-Solid NSCLC. SELLAS Life Sciences Announces USPTO Decision to Grant New Patent for Galinpepimut-S in Combination with Checkpoint Inhibitor Therapies. CHROMOSOME 19- TRISOMY 19Q The list of signs and symptoms mentioned in various sources for Chromosome 19q, partial duplication includes the 41 symptoms listed below: * Mental retardation * Poor physical development * Reduced muscle tone * Microbrachycephaly * Wide open sutures * Down slanting space between eyelids * Widely spaced eyes * Drooping upper eyelid *Short nose
DUHRING’S DISEASE
Overview. (Duhring's disease is aka " Dermatitis herpetiformis ", "Duhring Brocq disease") Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itchy blisters that may resemble pimples or blisters. The ingestion of gluten (from wheat, rye, and barley) triggers an immune system response that deposits aFOLLICULAR LYMPHOMA
Overview. Follicular lymphoma (FL) is the most common of non-Hodgkin's lymphomas accounting for approximately 20 percent to 30 percent of all non-Hodgkin's lymphoma.It is defined as a lymphoma of follicle center B-cells (centrocytes and centroblasts), whichREED’S SYNDROME
Reed’s syndrome (also known as Hereditary leiomyomatosis and renal cell cancer (HLRCC), multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL)) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, theuterus.
HEMORRHAGIC THROMBOCYTHEMIA (ESSENTIAL Symptoms. The list of signs and symptoms mentioned in various sources for Hemorrhagic thrombocythemia includes the 18 symptoms listed below: * Spontaneous bleeding * Coughing up blood * Melena * Menorrhagia * Anemia * Increased platelets * Nosebleed * Easy bleeding * Gastrointestinal tract bleeding * Peripheral vascular ischemia * Pulmonary emboli * Deep vein thrombosis * Digital ischemia PHILADELPHIA-NEGATIVE CHRONIC MYELOID LEUKEMIA Philadelphia-negative chronic myeloid leukemia is a slow-developing cancer of the bone marrow and blood in which the body produces an uncontrolled number of abnormal white blood cells. More than 90% of cases result from a cytogenetic aberration known as the Philadelphia chromosome (Philadelphia-positive chronic myeloid leukemia). MOERSCH-WOLTMAN CONDITION Moersch-Woltman Condition/Syndrome has also been refered to as: Stiff-Person-Syndrome or Stiff-Man Syndrome (SMS). Stiff-man Syndrome is a rare disease of severe progressive muscle stiffness of the spine and lower extremities with superimposed muscle spasms triggered by external stimuli or emotional stress. Typically symptoms begin betweenthe
CHROMOSOME 18- DELETION 18Q23 Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient. NANDROLONE DECANOATE CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan andneglected diseases.
NEW GENE THERAPY METHODS FIGHT RARE DISEASES CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan andneglected diseases.
NOVARTIS KYMRIAH® PIVOTAL TRIAL DEMONSTRATES STRONG Basel – Novartis today announced robust data from the primary analysis of the pivotal Phase II ELARA trial of Kymriah® (tisagenlecleucel) in patients with relapsed or refractory (r/r) follicular lymphoma (FL). NOVARTIS ANNOUNCES IPTACOPAN MET PHASE II STUDY PRIMARY Basel – Novartis today announced Phase II primary endpoint data showing investigational iptacopan (LNP023) – a first-in-class, oral, targeted factor B inhibitor – reduced protein in the urine (proteinuria), an increasingly recognized surrogate marker correlating with progression to kidney failure, and showed promise in stabilizing kidney function in patients with IgA nephropathy (IgAN CHARACTERISTICS OF INFANTS, TODDLERS WITH VON WILLEBRAND Diagnosing von Willebrand disease (VWD) in children younger than 2 is challenging, and data on this population is limited. However, recent research published in Blood Advances has found that infants and toddlers with VWD often have a family history of the disease and experience bleeding within the first year of life. PREDICTORS OF FAILED PSEUDOMONAS AERUGINOSA ERADICATION IN Pseudomonas aeruginosa infections were found to be a risk factor for failed eradication therapy in patients with cystic fibrosis who are resistant to neutrophil antibacterial functions, according to the results of a study published in The Journal of Infectious Diseases. BROOKLYN FAMILY HELPS FOUR-YEAR-OLD SON FIGHT RARE DISEASE BROOKLYN, Mich. – Full of life and full of love. That’s who four year-old Jaxon Meschke is. “All my friends! I love mom. I love dad and baby brother,” said four-year old Jaxon. CANCER TREATMENT CENTERS OF AMERICA ATLANTA LAUNCHES WOMEN ATLANTA – Cancer Treatment Centers of America® (CTCA) Atlanta has launched its Women’s Cancer Center, led by an experienced roster of fellowship-trained, board-certified physicians and clinicians with expertise in breast and gynecologic oncology. INTELLIA THERAPEUTICS TO PRESENT INTERIM CLINICAL DATA CAMBRIDGE, Mass. – Intellia Therapeutics, Inc.(NASDAQ:NTLA) today announced that a late-breaking abstract featuring interim Phase 1 clinical data from NTLA-2001, the Company’s lead CRISPR/Cas9 in vivo therapy in development as a single-dose, systemically administered treatment for transthyretin (ATTR) amyloidosis, has been selected for an oral presentation at the 2021 Peripheral KITE’S TECARTUS® DEMONSTRATES HIGH RESPONSE RATE IN ADULTS SANTA MONICA, Calif. – Kite, a Gilead Company (Nasdaq: GILD), announced today results from the primary analysis of ZUMA-3, a global, multicenter, single-arm, open-label Phase 1/2 study evaluating its chimeric antigen receptor (CAR) T-cell therapy Tecartus® (brexucabtagene autoleucel) in adult patients with relapsed or refractory B-cell precursor acute lymphoblastic leukemia (ALL). GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE DEFICIENCY Overview. Glyceraldehyde-3-phosphate dehydrogenase deficiency: A rare genetic syndrome characterized by a deficiency of an enzyme (Glyceraldehyde-3-phosphate dehydrogenase) which is involved in breaking down carbohydrates consumed in the diet in order to produceenergy.
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UNITED THERAPEUTICS ANNOUNCES FIRST PATIENT ENROLLED IN PHASE 3 TETON STUDY OF TYVASO IN PATIENTS WITH IDIOPATHIC PULMONARY FIBROSIS*
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United Therapeutics Announces First Patient Enrolled In Phase 3 TETON Study Of Tyvaso In Patients With Idiopathic Pulmonary Fibrosis Friday, June 4, 2021 SILVER SPRING, Md. and RESEARCH TRIANGLE PARK, N.C. – United Therapeutics Corporation (Nasdaq: UTHR) announced today that the first patient has enrolled in the phase 3 TETON study, which is expected to evaluate approximately 396 adult patients with idiopathic pulmonary fibrosis (IPF). This 52-week study will evaluate the impact of...*
Catalyst Pharmaceuticals, Inc.’s and KYE Pharmaceuticals’ Lawsuit in Canadian Federal Court Quashes the Notice of Compliance (NOC) forRuzurgi®
Friday, June 4, 2021 CORAL GABLES, Fla. – Catalyst Pharmaceuticals, Inc. (“Catalyst”) (Nasdaq: CPRX), a commercial-stage, patient-centric biopharmaceutical company focused on in-licensing, developing and commercializing novel high-quality medicines for patients living with rare diseases, and KYE Pharmaceuticals Inc. (“KYE”), a private company headquartered in Mississauga, Ontario and focused on bringing medicines that fulfill clinically...*
Bristol Myers Squibb Presents Data from CheckMate -648 Showing Opdivo plus Chemotherapy and Opdivo plus Yervoy Significantly Improved Overall Survival Compared to Chemotherapy in Unresectable Advanced or Metastatic Esophageal Squamous Cell Carcinoma Friday, June 4, 2021 PRINCETON, N.J. – Bristol Myers Squibb (NYSE: BMY) today announced results from the Phase 3 CheckMate -648 trial, in which two Opdivo-based treatment combinations — Opdivo (nivolumab) plus chemotherapy and Opdivo plus Yervoy (ipilimumab) — demonstrated a statistically significant and clinically meaningful overall survival (OS) benefit compared to chemotherapy at...More News
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Read our celebratory 15th anniversary edition of United today! It's packed full of news, updates, stories and interviews. This special edition also includes so many proud moments and achievements from thepast 15 years!
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Today Neuralink presents on tech that restores function! They want to hear from YOU so please join us! Register at: http://EverythingALS.org/events Submit your questions: info@everythingALS.org * June 2nd, 4pm, PT | 7pm ET@neuralink
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ABOUT CHECKORPHAN
CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within anygiven proximity.
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