Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome.

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Serval ID
serval:BIB_8289F0BD324C
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
UNIL/CHUV
Title
Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome.
Journal
Journal of Inherited Metabolic Disease
Author(s)
Skladal D., Sperl W., Henry H., Bachmann C.
ISSN
0141-8955
Publication state
Published
Issued date
1996
Peer-reviewed
Oui
Volume
19
Number
2
Pages
251-252
Language
english
Notes
Publication types: Case Reports ; Journal Article 33rd Annual Meeting of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism Toledo, Ohio, September 12-15, 1995
Keywords
Abnormalities, Multiple/etiology, Carbohydrate-Deficient Glycoprotein Syndrome/complications, Cataract/congenital, Electrophoresis, Gel, Two-Dimensional, Electrophoresis, Polyacrylamide Gel, Fingers/abnormalities, Humans, Infant, Male, Toes/abnormalities
OAI-PMH
oai:serval.unil.ch:BIB_8289F0BD324C
DOI
10.1007/BF01799442
Pubmed
8739978
Web of science
A1996UJ35400039
Create date
24/01/2008 21:49
Last modification date
20/08/2019 15:42
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