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Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… cirrhosis, acute liver failure or other serious liver disorders, a liver transplant may be the only option for … Gene Tests Genetic Alliance National Organization for Rare Disorders Finding Reliable Health Information Online … What … leading to organ damage that may cause death. … Genetic Disorders …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… or SCID, is a term applied to a group of inherited disorders characterized by defects in both T and B cell … severe, genetic condition of the immune system. … Genetic Disorders …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… of the fingers of the hand on the same side. … Genetic Disorders …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… of, or no, alpha-1 antitrypsin in the blood. … Genetic Disorders …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… emotional disturbance and cognitive decline. … Genetic Disorders …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… common syndrome associated with a cleft palate. … Genetic Disorders …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… condition that alters development in females. … Genetic Disorders …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … the care and clinical research of patients with metabolic disorders. The residency program includes many didactic … in the medical management of patients with metabolic disorders. They diagnose, manage and counsel outpatients and …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… the body's ability to regulate iron absorption. … Genetic Disorders …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… painful, swollen joints, and ankle rash. … Genetic Disorders …