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GM2-gangliosidosis I

См. также в других словарях:

  • GM2-gangliosidosis I — GM2 gangliosidosis I. = Tay Sachs disease (см.). (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.

  • GM2-gangliosidosis II — GM2 gangliosidosis II. = Sandhoff disease (см.). (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.

  • GM2-gangliosidosis II — GM2 gangliosidosis II. См. болезнь Сандгоффа. (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.

  • GM2 gangliosidosis — any of a group of lysosomal storage diseases characterized by abnormal accumulation of ganglioside GM2 and related glycoconjugates, due to deficiency of activity of one or more hexosaminidase isozymes or of an activator protein necessary for… …   Medical dictionary

  • GM2-gangliosidosis, AB variant — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 32644 ICD10 = ICD9 = ICDO = OMIM = 272750 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 3016 MeshID = D049290 GM2 gangliosidosis, AB variant is a rare, autosomal recessive metabolic… …   Wikipedia

  • GM2-gangliosidosis, type 1 — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • GM2-gangliosidosis, B variant — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • Type 1 GM2-gangliosidosis — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • B variant GM2-gangliosidosis — This disorder known as Tay Sachs disease (TSD) is concisely defined by OMIM (Online Mendelian Inheritance in Man) as “an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2… …   Medical dictionary

  • GM2 activator deficiency — GM2 gangliosidosis, AB variant …   Medical dictionary

  • GM2 g. AB variant — a GM2 gangliosidosis caused by mutation in the GM2Agene (locus: 5q31.3 q33.1), which encodes GM2 activator protein, a sphingolipid activator protein necessary for hexosaminidase A activity; this variant is clinically identical to infantile Tay… …   Medical dictionary

  • GM2 activator protein — a sphingolipid activator protein that binds GM2 ganglioside and related glycosphingolipids and presents them to hexosaminidase A for cleavage; it is necessary for enzyme activity. Deficiency results in GM2 gangliosidosis, AB variant …   Medical dictionary

  • gangliosidosis — f. metabol. Conjunto de anomalías hereditarias transmitidas de forma autosómica recesiva que provocan una acumulación de gangliósidos en el sistema nervioso. Son enfermedades letales que se dividen en dos grupos, las GM1 y las GM2, en función de… …   Diccionario médico

  • Gangliosidosis — Las gangliosidosis son un conjunto de enfermedades hereditarias debidas a un acúmulo de gangliósidos sobre todo en las neurona. Existen varias formas de gangliosidosis. ● Gangliosidosis GM1:Existe un acúmulo de gangliósido GM1 por déficit de ß… …   Enciclopedia Universal

  • Gangliosidosis — Las gangliosidosis son un conjunto de enfermedades de almacenamiento lisosómico hereditarias debidas a un acúmulo de gangliósidos (un tipo de esfingolípidos), sobre todo en las neuronas. La causa es la disfunción de alguno de los enzimas… …   Wikipedia Español

  • gangliosidosis — Any disease characterized, in part, by the abnormal accumulation within the nervous system of specific gangliosides, e.g., GM2 g., Tay Sachs disease, caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside. SYN …   Medical dictionary