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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
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… caused by a mutation in the FMR1 gene. … Genetic Disorders …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… Association - Cholesterol National Organization for Rare Disorders Online Mendelian Inheritance in Man eMedicine … at birth and heart attacks at an early age. … Genetic Disorders …
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
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… in post-menopausal, obese women of middle age. … 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
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's … The most common symptom is infertility. … 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 …