相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The Financial Burden of an Undiagnosed Congenital Diarrhea Disorder
Colleen LeBlanc et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2020)
Congenital Diarrheal Diseases
Mira Younis et al.
CLINICS IN PERINATOLOGY (2020)
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China
Ziqing Ye et al.
GENETICS IN MEDICINE (2019)
Advances in Evaluation of Chronic Diarrhea in Infants
Jay R. Thiagarajah et al.
GASTROENTEROLOGY (2018)
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
Jorik M. van Rijn et al.
GASTROENTEROLOGY (2018)
Reversal of Intestinal Failure in Children With Tufting Enteropathy Supported With Parenteral Nutrition at Home
Iona Ashworth et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2018)
Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations
Georg F. Vogel et al.
JCI INSIGHT (2017)
Congenital intestinal diarrhoeal diseases: A diagnostic and therapeutic challenge
C. Posovszky
BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY (2016)
Clinical and genetic features of lysinuric protein intolerance in Japan
Atsuko Noguchi et al.
PEDIATRICS INTERNATIONAL (2016)
A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
Walid Fazeli et al.
BMC GASTROENTEROLOGY (2015)
Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies
Roberto Berni Canani et al.
NATURE REVIEWS GASTROENTEROLOGY & HEPATOLOGY (2015)
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation
Julien L. Marcadier et al.
CANADIAN MEDICAL ASSOCIATION JOURNAL (2015)
Paediatric acid-base disorders: A case-based review of procedures and pitfalls
J. Bryan Carmody et al.
PAEDIATRICS & CHILD HEALTH (2013)
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
Julia Pagel et al.
BLOOD (2012)
Congenital Diarrheal Disorders: An Updated Diagnostic Approach
Gianluca Terrin et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2012)
DGAT1 mutation is linked to a congenital diarrheal disorder
Joel T. Haas et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Diarrhea in neonatal intensive care unit
Annalisa Passariello et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2010)
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
Thomas Mueller et al.
NATURE GENETICS (2008)