同: CEHD

WordNet

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

PrepTutorEJDIC

〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
(病気・身体的欠陥など)生まれつきの,先天的な

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English Journal

Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

Westphal V1, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH.
The American journal of pathology.Am J Pathol.2000 Dec;157(6):1917-25.
Intestinal biopsy in a boy with gastroenteritis-induced protein-losing enteropathy (PLE) showed loss of heparan sulfate (HS) and syndecan-1 core protein from the basolateral surface of the enterocytes, which improved after PLE subsided. Isoelectric focusing analysis of serum transferrin indicated a
PMID 11106564

Congenital enterocyte heparan sulphate deficiency with massive albumin loss, secretory diarrhoea, and malnutrition.

Murch SH1, Winyard PJ, Koletzko S, Wehner B, Cheema HA, Risdon RA, Phillips AD, Meadows N, Klein NJ, Walker-Smith JA.
Lancet (London, England).Lancet.1996 May 11;347(9011):1299-301.
BACKGROUND: The molecular basis of protein-losing enteropathy is unknown. However it has been shown that sulphated glycosaminoglycans may be important in regulating vascular and renal albumin loss.METHODS: We describe three baby boys who presented within the first weeks of life with massive enteric
PMID 8622507

Japanese Journal

Congenital enterocyte heparan sulphate deficiency with massive albumin loss, secretory diarrhoea, and malnutrition

MURCH SH
Lancet 347, 1299-1301, 1996
NAID 30006049410

Related Links

Congenital enterocyte heparan sulphate deficiency with ...

Congenital enterocyte heparan sulphate deficiency with massive albumin loss, secretory diarrhoea, and malnutrition Lancet . 1996 May 11;347(9011):1299-301. doi: 10.1016/s0140-6736(96)90941-1.

Congenital enterocyte heparan sulfate deficiency - NIH ...

Clinical resource with information about Congenital enterocyte heparan sulfate deficiency and its clinical features, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources

Pharos: congenital enterocyte heparan sulfate deficiency ...

Explore Associated Targets list. Mondo Description Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life. Mondo Term and Equivalent IDs. MONDO:0015171: congenital enterocyte heparan sulfate deficiency.