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

Details

Serval ID
serval:BIB_9507
Type
Article: article from journal or magazin.
Publication sub-type
Letter (letter): Communication to the publisher.
Collection
Publications
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
Pubmed
Web of science
Open Access
Yes
Create date
19/11/2007 13:48
Last modification date
08/05/2019 22:15
Usage data