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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Publicat a:J Pediatr Gastroenterol Nutr
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2017
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Article
Accés en línia: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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