Clinical variability of isovaleric acidemia in a genetically homogeneous population.
about
Ebstein cardiac anomaly, functional pulmonary atresia and isovaleric acidemia: A case report.Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.Dietary practices in isovaleric acidemia: A European survey.A new perspective on the importance of glycine conjugation in the metabolism of aromatic acids.Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.Chronic intermittent form of isovaleric aciduria in a 2-year-old boy.Acute pancreatitis with rapid clinical improvement in a child with isovaleric acidemia.Polyunsaturated fatty acid status in treated isovaleric acidemia patients.
P2860
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P2860
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
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2012年學術文章
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2012年學術文章
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name
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
@en
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
@nl
type
label
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
@en
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
@nl
prefLabel
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
@en
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
@nl
P2093
P2860
P1476
Clinical variability of isovaleric acidemia in a genetically homogeneous population
@en
P2093
C J Reinecke
H R Waterham
J P N Ruiter
M Dercksen
R J A Wanders
P2860
P2888
P304
P356
10.1007/S10545-012-9457-2
P50
P577
2012-02-17T00:00:00Z