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Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome
Author(s) -
Bellusci M.,
QuijadaFraile P.,
BarrioCarreras D.,
MartinHernandez E.,
GarciaSilva M.,
Merinero B.,
Perez B.,
HernandezLain A.
Publication year - 2017
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/s10545-017-0041-7
Subject(s) - reye syndrome , carnitine o palmitoyltransferase , medicine , muscle biopsy , carnitine , reye's syndrome , biopsy , metabolic disease , endocrinology , pediatrics , beta oxidation , metabolism