Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.

about

In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes Newborn screening for Krabbe disease in New York State: the first eight years' experience.Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.

P2860

Q36722478-7A3305D2-9F99-4FE5-9903-87C55A206DB9 Q48257030-53505FD0-D632-48A7-82FB-A05AB6A1C895 Q49483365-C5E8508F-CD39-4A0D-9307-430670376DDD

P2860

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.

Item

http://www.wikidata.org/entity/Q36116452

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

Array CGH improves detection o ...... ssociated with Krabbe disease.

@ast

Array CGH improves detection o ...... ssociated with Krabbe disease.

@en

type

Item

label

Array CGH improves detection o ...... ssociated with Krabbe disease.

@ast

Array CGH improves detection o ...... ssociated with Krabbe disease.

@en

prefLabel

Array CGH improves detection o ...... ssociated with Krabbe disease.

@ast

Array CGH improves detection o ...... ssociated with Krabbe disease.

@en

P1476

Array CGH improves detection o ...... ssociated with Krabbe disease.

@en

P2093

Alice K Tanner

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

Ephrem L H Chin

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

Madhuri Hegde

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

Patricia K Duffner

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

P2860

Krabbe disease: genetic aspects and progress toward therapy

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications

Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase.

Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.

Microarray-based mutation detection in the dystrophin gene.

Weighing the evidence for newborn screening for early-infantile Krabbe disease.

Characterization of the large deletion in the GALC gene found in patients with Krabbe disease.

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.

Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.

P2888

1750-1172-7-38

P304

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

P31

scholarly article

P356

10.1186/1750-1172-7-38

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

P478

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

P577

2012-06-15T00:00:00Z

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

P5875

227167870

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

P6179

1041191429

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

P698

22704718

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

P932

3404939

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

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.

about

P2860

P2860

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P577

P5875

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P577

P5875

P6179

P698

P932