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present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

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1. 遺伝性運動失調の概要 overview of the hereditary ataxias
2. 律動眼振 jerk nystagmus
3. 先天性代謝異常：分類 inborn errors of metabolism classification
4. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
5. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus

Features of gastric and colonic mucosa in congenital enteropathies: a study in histology and immunohistochemistry.

Treetipsatit J1, Hazard FK.
The American journal of surgical pathology.Am J Surg Pathol.2014 Dec;38(12):1697-706. doi: 10.1097/PAS.0000000000000287.
Congenital enteropathies comprise a constellation of rare clinicopathologic diagnoses characterized by intractable watery diarrhea and failure to thrive in infants. These diagnoses include, but are not limited to, tufting enteropathy (TE), microvillous inclusion disease (MID), and enteroendocrine ce
PMID 25007148

Evaluation of intestinal biopsies for pediatric enteropathy: a proposed immunohistochemical panel approach.

Martin BA1, Kerner JA, Hazard FK, Longacre TA.
The American journal of surgical pathology.Am J Surg Pathol.2014 Oct;38(10):1387-95. doi: 10.1097/PAS.0000000000000314.
Congenital enteropathies are rare disorders with significant clinical consequences; however, definitive diagnosis based on morphologic assessment of duodenal biopsies with routine stains alone is often impossible. To determine the role of immunohistochemistry (IHC) in the evaluation for microvillous
PMID 25188866

MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.

Girard M1, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V, Chardot C, Henrion-Caude A, Debray D.
Hepatology (Baltimore, Md.).Hepatology.2014 Jul;60(1):301-10. doi: 10.1002/hep.26974. Epub 2014 May 27.
Microvillous inclusion disease (MVID) is a congenital disorder of the enterocyte related to mutations in the MYO5B gene, leading to intractable diarrhea often necessitating intestinal transplantation (ITx). Among our cohort of 28 MVID patients, 8 developed a cholestatic liver disease akin to progres
PMID 24375397

Severe Infantile Sialidosis-The Characteristics of Oligosaccharides Isolated from the Urine and the Abdominal Ascites.:The Characteristics of Oligosaccharides Isolated from the Urine and the Abdominal Ascites