Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Beta-Ketothiolase Deficiency
Beta-ketothiolase deficiency is a rare, inherited metabolic disease. It happens when a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Mannosidosis
Mannosidosis is a rare, inherited lysosomal storage disease. In healthy cells, lysosomes ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Beta-D-Mannosidosis
Beta-D-mannosidosis is a very rare inherited disease. It happens when a person is born ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Cooley’s Anemia (β-Thalassemia Major)
Cooley’s anemia is a genetic blood disease. It happens when the body cannot make enough ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Beta Thalassemia Syndrome
Beta Thalassemia Syndrome is a group of inherited blood conditions where the body cannot ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Thrombopathy Focused on the Bernard–Soulier Types
A thrombopathy is a problem with how platelets work. Platelets are tiny blood cells that ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Hemorrhagiparous Thrombocytic Dystrophy
Hemorrhagiparous thrombocytic dystrophy is also known as bleeding-prone disorder ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Hemorrhagic Dystrophic Thrombocytopenia
Hemorrhagic dystrophic thrombocytopenia” is an old, descriptive name that doctors once ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Giant Platelet Syndrome
Giant platelet syndrome means the platelets in your blood are unusually large and the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Giant Platelet Disorder
Giant platelet disorder means you are born with very large platelets and often fewer ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Bernard-Soulier Syndrome (BSS)
Bernard-Soulier syndrome is a rare bleeding disorder that you are born with. It happens ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Bernard–Soulier Thrombopathy (Bernard–Soulier Syndrome)
Bernard–Soulier thrombopathy is a rare, inherited bleeding disorder where platelets—the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Bernard–Soulier Syndrome
Bernard–Soulier syndrome is a rare inherited bleeding disorder. In BSS, platelets are ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Total lipodystrophy
Total lipodystrophy means the body loses almost all its fat everywhere. “Fat” here means ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Generalised Congenital Lipodystrophy (GCL)
Generalised congenital lipodystrophy (GCL) is a rare genetic condition present from ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Berardinelli-Seip syndrome
Berardinelli-Seip syndrome is a rare genetic condition where the body is born with almost ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
Lethal Popliteal Pterygium Syndrome (LPPS)
Lethal popliteal pterygium syndrome (LPPS) is a very rare genetic condition present from ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)
TAZ- Related Dilated Cardiomyopathy
TAZ-related dilated cardiomyopathy is a heart muscle disease caused by changes ...
