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1 infantile GM2 gangliosidosis
1) Общая лексика: инфантильны (наследственное заболевание, проявляющееся нарушением обмена липидов из-за врожденной ферментативной недостаточности, что приводит к разрушению клеток центральной нервной системы)Универсальный англо-русский словарь > infantile GM2 gangliosidosis
См. также в других словарях:
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
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
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
Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… … Medical dictionary
Tay-Sachs disease — Infobox Disease Name = Tay Sachs disease Caption = DiseasesDB = 12916 ICD10 = ICD10|E|75|0|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 272800 OMIM mult = OMIM2|272750 MedlinePlus = 001417 eMedicineSubj = ped eMedicineTopic = 3016 MeshID = D013661 Tay… … Wikipedia
HEXA — Hexosaminidase A (alpha polypeptide), also known as HEXA, is a human gene. PBB Summary section title = summary text = Hexosaminidase A is the alpha subunit of the lysosomal enzyme beta hexosaminidase that, together with the cofactor GM2 activator … Wikipedia
List of diseases (G) — A list of diseases in the English wikipedia.DiseasesTOC G* G syndromeGaGal Gap* Galactorrhea * Galactocoele * Galactokinase deficiency * Galactorrhoea Hyperprolactinaemia * Galactosamine 6 sulfatase deficiency * Galactose 1 phosphate… … Wikipedia
ГАНГЛИОЗИДОЗЫ — мед. Ганглиозидоз любая болезнь, характеризующаяся патологическим накоплением (особенно в нервной системе) ганглиозидов. Классификация • Ганглиозидоз GM1 (вероятно, р). Причина: в установленных случая недостаточность Ом2 р галактозидазы,… … Справочник по болезням