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Phosphomannomutase deficiency is the main cause of carbohydrate‐deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins
Author(s) -
Jaeken J.,
Artigas J.,
Barone R.,
Fiumara A.,
Koning T. J.,
PollThe B. T.,
Rijkvan Andel J. F.,
Hoffmann G. F.,
Assmann B.,
Mayatepek E.,
Pineda M.,
Vilaseca M. A.,
Saudubray J. M.,
Schlüter B.,
Wevers R.,
Van Schaftingen E.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005331523477
Subject(s) - university hospital , medicine , pediatrics , family medicine , library science , gerontology , computer science