Challenge of phenotype estimation for optimal treatment of Krabbe disease.

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Challenge of phenotype estimation for optimal treatment of Krabbe disease.

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

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2016年论文

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Challenge of phenotype estimation for optimal treatment of Krabbe disease.

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Challenge of phenotype estimation for optimal treatment of Krabbe disease.

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Challenge of phenotype estimation for optimal treatment of Krabbe disease.

@en

P1476

Challenge of phenotype estimation for optimal treatment of Krabbe disease.

@en

P2093

Takanobu Otomo

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P2860

Structure and organization of the human galactocerebrosidase (GALC) gene

Insights into Krabbe disease from structures of galactocerebrosidase

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation

A new initiative on precision medicine

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

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

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines.

Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy

P304

1025-1030

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P31

scholarly article

P356

10.1002/JNR.23914

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P433

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

P478

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

P50

Norio Sakai

P577

2016-11-01T00:00:00Z

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P698

27638587

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