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Elsevier电子期刊(1)
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Elsevier电子期刊
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1.
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening
作者:
Jaffar Alfardan
;
Al-Walid Mohsen
;
Sara Copel
;
Jay Ellison
;
Laura
Keppen
-
Davis
;
Marianne Rohrbach
;
Berkley R. Powell
;
Jane Gillis
;
Dietrich Matern
;
Jeffrey Kant
;
Jerry Vockley
关键词:
Branched chain acyl coenzyme A dehydrogenase
;
2-Methylbutyryl coenzyme A dehydrogenase
;
Organic acidemia
;
Isoleucine metabolism
;
Acyl-CoA dehydrogenase
;
Newborn screening
刊名:Molecular Genetics and Metabolism
出版年:2010
1
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2010年(1)
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