Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization

OBJECTIVES: Congenital diarrheal disorders is a group of inherited enteropathies presenting in early life and requiring parenteral nutrition. In most cases, genetics may be the key for precise diagnosis. We present an infant girl with chronic congenital diarrhea that resolved after introduction of f...

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Detalhes bibliográficos
Publicado no:J Pediatr Gastroenterol Nutr
Main Authors: Haberman, Yael, Di Segni, Ayelet, Loberman-Nachum, Nurit, Barel, Ortal, Kunik, Vered, Eyal, Eran, Kol, Nitzan, Hout-Siloni, Goni, Kochavi, Brigitte, Avivi, Camila, Schvimer, Michael, Rechavi, Gideon, Anikster, Yair, Barshack, Iris, Weiss, Batia
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8176889/
https://ncbi.nlm.nih.gov/pubmed/27749612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPG.0000000000001424
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