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Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype
Author(s) -
Ijlst L.,
Uskikubo S.,
Kamijo T.,
Hashimoto T.,
Ruiter J. P. N.,
Klerk J. B. C.,
Wanders R. J. A.
Publication year - 1995
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 - 10.1007/bf00711778
Subject(s) - medicine , university hospital , newborn screening , pediatrics , biochemistry , medical school , family medicine , medical education
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