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Results 1 - 10 of 199 for Transport
  1. Cerebral folate transport deficiency 
    Cerebral folate transport deficiency is a disorder that develops from a shortage (deficiency) of the B-vitamin folate (also called vitamin B9) in the brain. Affected ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  2. Primary carnitine deficiency 
    ... instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring ... uptake defect Carnitine uptake deficiency CUD Renal carnitine transport defect Systemic carnitine deficiency Genetic Testing Registry: Renal ...
    https://medlineplus.gov/.../condition/primary-carnitine-deficiency - Genetics
  3. Familial hypobetalipoproteinemia 
    ... impairs the body's ability to absorb and transport fats. This condition is characterized by low levels ... of these proteins are components of lipoproteins, which transport fats and cholesterol in the blood.Most APOB ...
    https://medlineplus.gov/.../familial-hypobetalipoproteinemia - Genetics
  4. Transcobalamin deficiency 
    Transcobalamin deficiency is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within ... as meat, eggs, and shellfish. An inability to transport cobalamin within the body results in cells that ...
    https://medlineplus.gov/genetics/condition/transcobalamin-deficiency - Genetics
  5. Hypochromic microcytic anemia with iron overload 
    ... overload is a condition that impairs the normal transport of iron in cells. Iron is an essential ... all tissues, where its primary role is to transport positively charged iron atoms (ions) within cells. In ...
    https://medlineplus.gov/...omic-microcytic-anemia-with-iron-overload - Genetics
  6. Saul-Wilson syndrome 
    ... COG complex plays an important role in the transport of proteins from the Golgi apparatus to another ... apparatus to the endoplasmic reticulum (known as retrograde transport) is important for recycling proteins and relocating misplaced ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics
  7. Hartnup disease 
    ... cells. The function of this protein is to transport certain amino acids into cells. In the intestines, ... Hartnup disorder Hartnup's disease Neutral amino acid transport defect Genetic Testing Registry: Neutral 1 amino acid ...
    https://medlineplus.gov/genetics/condition/hartnup-disease - Genetics
  8. COG5-congenital disorder of glycosylation 
    ... functions.The COG complex takes part in the transport of proteins, including those that perform glycosylation, in ... protein or eliminate it completely, which disrupts protein transport. This disruption results in abnormal protein glycosylation, which ...
    https://medlineplus.gov/...cog5-congenital-disorder-of-glycosylation - Genetics
  9. Glycogen storage disease type I 
    ... condition. Glucose-6-phosphate deficiency Glucose-6-phosphate transport defect GSD I GSD type I Hepatorenal form ... s disease Genetic Testing Registry: Glucose-6-phosphate transport defect Genetic Testing Registry: Glycogen storage disease due ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics
  10. Congenital hypothyroidism 
    Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid ...
    https://medlineplus.gov/genetics/condition/congenital-hypothyroidism - Genetics
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