Metabolic etiologies in West syndrome.

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Metabolic etiologies in West syndrome.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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name

Metabolic etiologies in West syndrome.

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Metabolic etiologies in West syndrome.

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Item

label

Metabolic etiologies in West syndrome.

@en

Metabolic etiologies in West syndrome.

@nl

prefLabel

Metabolic etiologies in West syndrome.

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Metabolic etiologies in West syndrome.

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P1476

Metabolic etiologies in West syndrome.

@en

P2093

Aristea S Galanopoulou

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Seda Salar

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Solomon L Moshé

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P2860

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

P304

134-166

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P31

scholarly article

P356

10.1002/EPI4.12102

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P433

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P478

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P577

2018-03-14T00:00:00Z

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P698

29881795

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P932

5983207

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