A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.

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Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity

P2860

Q24540488-D438F378-5F2E-43AB-B0A8-E28E9BB699F9 Q33799081-F47476C8-631B-46A3-9A3F-D30D1167BAA5

P2860

A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.

Item

http://www.wikidata.org/entity/Q40673426

description

2002 nî lūn-bûn

@nan

2002年の論文

@ja

2002年論文

@yue

2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

@zh-mo

2002年論文

@zh-tw

2002年论文

@wuu

2002年论文

@zh

2002年论文

@zh-cn

name

A novel HPLC-based method to d ...... noyl-CoA hydratase deficiency.

@en

type

Item

label

A novel HPLC-based method to d ...... noyl-CoA hydratase deficiency.

@en

prefLabel

A novel HPLC-based method to d ...... noyl-CoA hydratase deficiency.

@en

P1476

A novel HPLC-based method to d ...... noyl-CoA hydratase deficiency.

@en

P2093

Elisabeth G van Grunsven

http://www.w3.org/2001/XMLSchema#string

Georges Dacremont

http://www.w3.org/2001/XMLSchema#string

Jolein Gloerich

http://www.w3.org/2001/XMLSchema#string

Sacha Ferdinandusse

http://www.w3.org/2001/XMLSchema#string

Simone Denis

http://www.w3.org/2001/XMLSchema#string

P2860

Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency

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

D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder

Cleavage of structural proteins during the assembly of the head of bacteriophage T4

The reactions catalyzed by the inducible bifunctional enzyme of rat liver peroxisomes cannot lead to the formation of bile acids

Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.

Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group.

P304

640-644

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1194/JLR.D200039-JLR200

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Ronald J A Wanders

P577

2002-12-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

10921019

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P698

12562856

http://www.w3.org/2001/XMLSchema#string

A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.

about

P2860

P2860

A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698