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Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype
by
Scholte, H.R.
,
Van Coster, R.N.A.
,
de Jonge, P.C.
,
Poorthuis, B.J.H.M.
,
Jeneson, J.A.L.
,
Andresen, B.S.
,
Gregersen, N.
,
de Klerk, J.B.C.
,
Busch, H.F.M.
Published in
Neuromuscular disorders : NMD
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Defects in Mitochondrial Beta Oxidation
by
SCHOLTE, H.R.
,
LUYT-HOUWEN, I.E.M.
,
BLOM, W.
,
BUSCH, H.F.M.
,
DE JONGE, P.C.
,
DE VISSER, M.
,
HUIJMANS, J.G.M.
,
JENNEKENS, F.G.I.
,
MOOY, P.D.
,
PRZYREMBEL, H.
,
SCHUTGENS, R.B.H.
,
VAANDRAGER-VERDUIN, M.H.M.
,
VAN COSTER, R.N.A.
Published in
Annals of the New York Academy of Sciences
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Journal Title
Annals Of The New York Academy Of Sciences
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Neuromuscular Disorders : Nmd
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Subjects
31P-Nuclear Magnetic Resonance Spectroscopy
1 results
1
Acyl-Coa Dehydrogenase, Long-Chain
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1
Acyl-Coa Dehydrogenases - Deficiency
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1
Acyl-Coa Dehydrogenases - Genetics
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1
Adolescent
1 results
1
Adult
1 results
1
Alkalosis
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1
Cardiomyopathy, Hypertrophic - Enzymology
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1
Cardiomyopathy, Hypertrophic - Genetics
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1
Cardiomyopathy, Hypertrophic - Pathology
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Carnitine
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Carnitine - Blood
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Carnitine - Metabolism
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1
Clinical Neurology
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Diagnosis, Differential
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Dna Mutational Analysis
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Fatal Outcome
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Fibroblasts - Metabolism
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Humans
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Intracellular Ph
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Wiley-Blackwell Journals (Backfile Content)
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Wiley Online Library
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Crl Open Access Serials
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Elsevier Sciencedirect Journals
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Elsevier
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Wiley-Blackwell Read & Publish Collection
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Ezb Electronic Journals Library
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