Загрузка...

Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.

The biochemical abnormalities of I-cell disease (mucolipidosis II) and pseudo-Hurler polydystrophy (mucolipidosis III) can be explained by a deficiency of the enzyme UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We demonstrate here that obligate heterozygotes for...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Varki, A, Reitman, M L, Vannier, A, Kornfeld, S, Grubb, J H, Sly, W S
Формат: Artigo
Язык:Inglês
Опубликовано: 1982
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685437/
https://ncbi.nlm.nih.gov/pubmed/6289658
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!