Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
about
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and managementGeneral mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnoverGenetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.Deregulation of mitochondrial functions provoked by long-chain fatty acid accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial permeability transition deficiencies in rat heart--mitochondrial permeability transition pore openLong-chain 3-hydroxy fatty acids accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies uncouple oxidative phosphorylation in heart mitochondria.
P2860
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年學術文章
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name
Early neonatal diagnosis of lo ...... nctional protein deficiencies.
@en
Early neonatal diagnosis of lo ...... nctional protein deficiencies.
@nl
type
label
Early neonatal diagnosis of lo ...... nctional protein deficiencies.
@en
Early neonatal diagnosis of lo ...... nctional protein deficiencies.
@nl
prefLabel
Early neonatal diagnosis of lo ...... nctional protein deficiencies.
@en
Early neonatal diagnosis of lo ...... nctional protein deficiencies.
@nl
P2093
P356
P1476
Early neonatal diagnosis of lo ...... unctional protein deficiencies
@en
P2093
Arnold Strauss
Christopher Colby
Dietrich Matern
Gregory M Enns
Joyce Kobori
Michael J Bennett
Susan R Hintz
Susan Schelley
P304
P356
10.1006/MGME.2001.3282
P577
2002-02-01T00:00:00Z