Uncategorized Promising Therapeutic Approaches for Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy (SMA) is a genetic neurodegenerative disease that leads to progressive muscle weakness and paralysis and if left...
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Rare Disease Understanding Pompe Disease: Symptoms, Diagnosis, and Treatment
Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder that affects approximately 1 in...
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Therapies Gene therapy & β-thalassemia
It seems that the hope of gene therapy for transfusion-dependent β-thalassemia (TDT) is becoming so close. During the 62nd American Society of Hematology...
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Rare Disease What is Cushing syndrome?
Cushing syndrome is a rare benign or non-cancerous tumor. This syndrome affects both men and women, but it has a...
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Rare Disease Chronic diarrhoea or Carcinoid Syndrom
Carcinoid syndrome usually takes place in patients with an advanced stage of carcinoid tumors. Carcinoid tumor is a type of...
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Rare Disease What is Char syndrome?
Char syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by: Triad of patent ductus arteriosus (PDA)Typical facial features...
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Rare Disease What is Calciphylaxis?
Calciphylaxis is an uncommon, rare, serious, and fatal disorder that is characterized by: Calcification of the small blood vessels located...
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Rare Disease What is Amyloidosis?
What is Amyloidosis? An amyloidosis is a group of serious and rare diseases in which abnormal proteins, known as amyloid...
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Rare Disease What is Sarcoidosis?
Sarcoidosis is a rare disease where inflamed cells clump together to make small lumps called granulomas which can develop in...
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Rare Disease What is Wilson’s disease?
What is Wilson’s disease? Wilson’s disease is a rare genetic autosomal disease. It occurs in approximately one in 30,000 to...
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Rare Disease What is Alport syndrome?
Welcome to WordPress. This is your first post. Edit or del What is Alport syndrome? Alport syndrome is one of...
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