Literature DB >> 12414827

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.

S Vuillaumier-Barrot, C Le Bizec, P de Lonlay, A Barnier, G Mitchell, V Pelletier, C Prevost, J M Saudubray, G Durand, N Seta.   

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Year:  2002        PMID： 12414827      PMCID： PMC1735008          DOI： 10.1136/jmg.39.11.849

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  Clinical utility gene card for: Phosphomannose isomerase deficiency.

Authors:  Jaak Jaeken; Dirk Lefeber; Gert Matthijs
Journal:  Eur J Hum Genet       Date:  2014-02-26       Impact factor: 4.246

Review 2.  Metabolic manipulation of glycosylation disorders in humans and animal models.

Authors:  Hudson H Freeze; Vandana Sharma
Journal:  Semin Cell Dev Biol       Date:  2010-04-02       Impact factor: 7.727

3.  A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.

Authors:  Asma Deeb; Abdulla Al Amoodi
Journal:  Clin Case Rep       Date:  2018-01-25
  3 in total

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