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Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
PMID: 9585601 [PubMed - indexed for MEDLINE]
PMCID: PMC1377152
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Cited by 7 PubMed Central articles
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Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S.
Am J Hum Genet. 2003 Mar; 72(3):691-703. Epub 2003 Jan 15.
[Am J Hum Genet. 2003]
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MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, et al.
J Clin Invest. 2001 Dec; 108(11):1687-95.
[J Clin Invest. 2001]
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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, et al.
J Med Genet. 2001 Jan; 38(1):14-9.
[J Med Genet. 2001]
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