Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme.

Eight cases of congenital sucrase-isomaltase deficiency were studied at the subcellular and protein level with monoclonal antibodies against sucrase-isomaltase. At least three phenotypes were revealed: one in which sucrase-isomaltase protein accumulated intracellularly probably in the endoplasmic re...

Celý popis

Podrobná bibliografie

Vydáno v:	J Clin Invest
Hlavní autoři:	Naim, H Y, Roth, J, Sterchi, E E, Lentze, M, Milla, P, Schmitz, J, Hauri, H P
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	American Society for Clinical Investigation 1988
Témata:	Research Article
On-line přístup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303562/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3403721/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113646
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!