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

Jaeken, J.; Matthijs, G.; Saudubray, J.M.; Dionisi-Vici, C.; Bertini, E.; de Lonlay, P.; Henri, H.; Carchon, H.; Schollen, E.; Van Schaftingen, E.

doi:10.1086/301873

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

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Serval ID

serval:BIB_9507

Type

Article: article from journal or magazin.

Publication sub-type

Letter (letter): Communication to the publisher.

Collection

Publications

Institution

UNIL/CHUV

Title

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

Journal

American Journal of Human Genetics

Author(s)

Jaeken J., Matthijs G., Saudubray J.M., Dionisi-Vici C., Bertini E., de Lonlay P., Henri H., Carchon H., Schollen E., Van Schaftingen E.

ISSN

0002-9297

Publication state

Published

Issued date

1998

Volume

62

Number

6

Pages

1535-1539

Language

english

Notes

Publication types: Letter

Keywords

Amino Acid Sequence, Carbohydrate-Deficient Glycoprotein Syndrome/genetics, Carbohydrate-Deficient Glycoprotein Syndrome/physiopathology, Humans, Intestinal Diseases/enzymology, Liver Diseases/enzymology, Mannose-6-Phosphate Isomerase/deficiency, Molecular Sequence Data, Syndrome

OAI-PMH

oai:serval.unil.ch:BIB_9507

DOI

10.1086/301873

Pubmed

9585601

Web of science

000074174700032

Open Access

Yes

Create date

19/11/2007 13:48