Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Angelman Syndrome
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Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near ...

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Neural Tube Defects
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Neural tube defects are the most common severe central nervous system anomalies, only second to cardiovascular abnormalities resulting in congenital ...

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Anencephaly
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Anencephaly is a term that refers to the incomplete development of the brain, skull, and scalp and is part of a group of birth defects called neural tube ...

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Intrinsic Factor
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The intrinsic factor (IF) is a glycoprotein produced by the parietal cells (oxyntic cells) located at the gastric body and fundus. Intrinsic factor plays a ...

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Pernicious Anemia
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Pernicious anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, from a deficiency of cobalamin ...

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Myelophthisic Anemia
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Myelophthisic anemia is anemia characterized by the presence of immature erythrocytes in the peripheral blood due to the infiltration (crowding out) of the ...

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Megaloblastic Anemia
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Megaloblastic anemia is a heterogeneous group of macrocytic anemias characterized by the presence of large red blood cell precursors called megaloblasts in ...

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Autoimmune Hemolytic Anemia
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Autoimmune hemolytic anemia is a rare disorder characterized by the premature destruction (hemolysis) of red blood cells at a rate faster than they can be ...

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Sickle Cell Anemia
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Sickle cell anemia is an inherited disorder of the globin chains that causes hemolysis and chronic organ damage. This activity reviews the pathophysiology, ...

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Chronic Anemia
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Chronic anemia also called the anemia of inflammation, is a condition that can be associated with many different underlying disorders including chronic ...

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Anemia of Chronic Disease
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Anemia of chronic disease, also called the anemia of inflammation, is a condition that can be associated with many different underlying disorders including ...

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Andersen-Tawil Syndrome
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Andersen-Tawil syndrome is sometimes referred to as long QT syndrome 7 because some individuals in early reports of the disorder had a prolonged QT ...

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Glycogen Storage Disease (GSD)
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Glycogen Storage Disease (GSD) belongs to a group of rare genetic hereditary metabolic disorders of glycogen metabolism, known as glycogen storage diseases ...

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Andersen Disease
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Andersen disease belongs to a group of rare genetic hereditary metabolic disorders of glycogen metabolism, known as glycogen storage diseases is ...

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Anaplastic Astrocytoma
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Anaplastic astrocytoma is a rare malignant brain tumor. Astrocytomas are tumors that develop from certain star-shaped brain cells called astrocytes. ...

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Amyotrophic Lateral Sclerosis (ALS)
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Amyotrophic lateral sclerosis (ALS) also known as “Lou Gehrig disease, is a neurodegenerative disorder of the motor neurons characterized by the ...

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Amyloidosis
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Amyloidosis is a rare heterogeneous acquired or hereditary systemic group of disorders caused by a build-up of an abnormal protein called amyloid in organs ...

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Amniotic Fluid Embolism (AFE)
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Amniotic fluid embolism (AFE) is an extremely rare, but life-threatening obstetric emergency characterized by sudden cardiorespiratory collapse and ...

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Amniotic Band Syndrome
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Amniotic band syndrome is a well-known condition potentially associated with a variety of different birth defects that comprises various congenital ...

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Amelogenesis Imperfecta
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Amelogenesis imperfecta (AI) refers to a group of rare, inherited disorders characterized by abnormal incomplete enamel formation or calcification of the ...

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