Carbohydrate-deficient glycoprotein syndromes: the Italian experience.

作者信息

Di Rocco M, Barone R, Adami A, Burlina A, Carrozzi M, Dionisi-Vici C, Gatti R, Iannetti P, Parini R, Raucci U, Roccella M, Spada M, Fiumara A

机构信息

Institute of Pediatrics, Giannina Gaslini Institute, Genoa, Genova, Italy.

出版信息

J Inherit Metab Dis. 2000 Jun;23(4):391-5. doi: 10.1023/a:1005608019977.

DOI:10.1023/a:1005608019977

PMID:10896302

Abstract

摘要

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本文引用的文献

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Eur J Paediatr Neurol. 1997;1(2-3):61-6. doi: 10.1016/s1090-3798(97)80064-5.

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

J Clin Invest. 1998 Aug 15;102(4):647-52. doi: 10.1172/JCI2266.

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Am J Hum Genet. 1998 Jun;62(6):1535-9. doi: 10.1086/301873.

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477.

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

Nat Genet. 1997 May;16(1):88-92. doi: 10.1038/ng0597-88.

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

Br J Ophthalmol. 1994 Nov;78(11):845-6. doi: 10.1136/bjo.78.11.845.

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

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