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1 . Academic Journal
Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts
저자
by
Nanda M. Verhoeven
;
Diane S. Roe
;
Robert M. Kok
;
Ronald J.A. Wanders
;
Cornelis Jakobs
, et al.
소스
Journal of Lipid Research, Vol 39, Iss 1, Pp 66-74 (1998)
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7 .
Carnitine palmitoyltransferase II deficiency: Successful anaplerotic diet therapy
저자
by
Mary Wallace
;
Brenda Garritson
;
Henri Brunengraber
;
Diane S. Roe
;
Bing-Zhi Yang
, et al.
소스
Neurology
. 71:260-264
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7 .
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans
저자
by
Nicolas J Lench
;
Stephen D. Cederbaum
;
Sandro Ghisla
;
Tien V. Nguyen
;
Al-Walid Mohsen
, et al.
소스
BASE-Bielefeld Academic Search Engine
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7 .
Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype
저자
by
Diane S. Roe
;
Shailja Sharma
;
Charles R. Roe
;
Christine Vianey-Saban
;
Marie-Thérèse Zabot
.
소스
Clinica Chimica Acta
. 312:55-67
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7 .
Evidence for a Short-Chain Carnitine–Acylcarnitine Translocase in Mitochondria Specifically Related to the Metabolism of Branched-Chain Amino Acids
저자
by
Diane S. Roe
;
Charles R. Roe
;
Michèle Brivet
;
Lawrence Sweetman
.
소스
Molecular Genetics and Metabolism
. 69:69-75
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6 .
Recent Developments in the Investigation of Inherited Metabolic Disorders Using Cultured Human Cells
저자
by
Charles R. Roe
;
Diane S. Roe
.
소스
Molecular Genetics and Metabolism
. 68:243-257
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4 .
Identification of Two Novel Mutations in the Hypoglycemic Phenotype of Very Long Chain Acyl-CoA Dehydrogenase Deficiency
저자
by
Theresa A. Grebe
;
Bing-Zhi Yang
;
Charles R. Roe
;
Guocheng He
;
Diane S. Roe
, et al.
소스
Biochemical and Biophysical Research Communications
. 264:483-487
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7 .
Isolated Isobutyryl-CoA Dehydrogenase Deficiency: An Unrecognized Defect in Human Valine Metabolism
저자
by
Diane S. Roe
;
Lawrence Sweetman
;
Rebecca Mardach
;
Alvaro Galindo
;
Stephen D. Cederbaum
, et al.
소스
Molecular Genetics and Metabolism
. 65:264-271
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7 .
Methylmalonic Semialdehyde Dehydrogenase Deficiency: Psychomotor Delay and Methylmalonic Aciduria without Metabolic Decompensation
저자
by
Cornelis Jakobs
;
Diane S. Roe
;
Charles R. Roe
;
Robert A. Harris
;
R. M. Kok
, et al.
소스
Molecular Genetics and Metabolism
. 65:35-43
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7 .
A Novel Mutation Identified in Carnitine Palmitoyltransferase II Deficiency
저자
by
Charles R. Roe
;
Bing-Zhi Yang
;
Donald W. Day
;
Diane S. Roe
;
Jia-Huan Ding
, et al.
소스
Molecular Genetics and Metabolism
. 63:110-115
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