Fabry disease


Fabry disease
болезнь Фабри
НЗЧ из группы гликозидозов, обусловленное нарушением обмена гликолипидов в результате дефицита фермента церамид—галактозидазы А; наследуется по рецессивному сцепленному с полом типу, ген GLA локализован на длинном плече Х-хромосомы.

Англо-русский толковый словарь генетических терминов. — М.: Изд-во ВНИРО. . 1995.

Смотреть что такое "Fabry disease" в других словарях:

  • Fabry disease — ICD10 = E75.2 (ILDS E75.25) Classification and external resources Alpha galactosidase the protein that is deficient in Fabry disease …   Wikipedia

  • Fabry disease — Fabry disease. См. болезнь Фабри. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Fabry disease — A genetic disease due to deficiency of an enzyme called alpha galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in the kidneys, heart, nerves… …   Medical dictionary

  • Fabry disease — (= angiokeratoma) Storage disease due to deficiency of ceramide trihexosidase …   Dictionary of molecular biology

  • Fabry disease — n. genetic disease of deficiency of alpha galactosidase A enzyme …   English contemporary dictionary

  • Anderson-Fabry disease — A genetic disease, also known as Fabry disease, due to deficiency of an enzyme called alpha galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in …   Medical dictionary

  • Fabry's disease — DiseaseDisorder infobox Name = Fabry disease ICD10 = ICD10|E|75|2|e|70 (ILDS E75.25) ICD9 = ICD9|272.7 ICDO = Caption = OMIM = 301500 OMIM mult = MedlinePlus = eMedicineSubj = neuro eMedicineTopic = 579 DiseasesDB = 4638 MeshID = D000795 Fabry… …   Wikipedia

  • Disease, Anderson-Fabry — A genetic disease, also known as Fabry disease, due to deficiency of an enzyme called alpha galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in …   Medical dictionary

  • Disease, Fabry — A genetic disease due to deficiency of an enzyme called alpha galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in the kidneys, heart, nerves… …   Medical dictionary

  • Fabry — n. family name; Johannes Fabry (1860 1930), German dermatologist (Fabry disease named after him); large lunar crater …   English contemporary dictionary

  • Fabry — can refer to the following:*Charles Fabry French physicist, inventor of the Fabry Perot etalon *Fabry s diseaseFabri can refer to the following:*Martinus Fabri a Dutch composer *Thomas Fabri a Dutch (Franco flemish) composer …   Wikipedia


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