gaucher disease
1Gaucher disease — ▪ disease rare inherited metabolic disorder characterized by anemia, mental and neurologic impairment, yellowish pigmentation of the skin, enlargement of the spleen, and bone deterioration resulting in pathological fractures. Gaucher… …
2Gaucher disease — Gaucher disease. См. болезнь Гоше. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …
3Gaucher disease — A series of 5 diseases due to deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in tissues of the body. The 5 types of Gaucher disease encompass a continuum of clinical findings from a lethal form… …
4Gaucher disease, type 1 — The most common and best known form of Gaucher disease. It affects the spleen, liver, and bone marrow and spares the brain. The symptoms include enlargement of the spleen (usually the first sign), anemia, low blood platelets, increased skin… …
5Gaucher disease, types 2-5 — A series of disease due to glucocerebrosidase deficiency and accumulation of glucocerebroside in cells. By comparison with type 1 Gaucher disease, these are far less frequent forms of Gaucher disease. Types 2 and 3 Gaucher disease are… …
6Gaucher's disease — Classification and external resources Acid beta glucosidase ICD 10 E75 …
7Gaucher-Krankheit — Klassifikation nach ICD 10 E75.2 Sonstige Sphingolipidosen Gaucher Krankheit …
8Gaucher-Syndrom — Klassifikation nach ICD 10 E75.2 Sonstige Sphingolipidosen Gaucher Krankheit …
9Disease, Tay-Sachs (TSD) — Deficiency of hexosaminidase A causes a disorder known as Tay Sachs disease (TSD) which is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic… …
10Gaucher cell — a large and distinctive cell characteristic of Gaucher disease, with one or more eccentrically placed nuclei and with fine wavy kerasin fibrils running parallel to the long axis of the cell, imparting a wrinkled, tissue paper appearance to the… …
