Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

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Adult-onset Krabbe disease in two generations of a Chinese family.Exonic deletions in are frequent in Japanese globoid-cell leukodystrophy patients A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life

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P2860

Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年學術文章

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Large-scale study of clinical ...... diagnosed with Krabbe disease.

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Large-scale study of clinical ...... diagnosed with Krabbe disease.

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Large-scale study of clinical ...... diagnosed with Krabbe disease.

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Large-scale study of clinical ...... diagnosed with Krabbe disease.

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Large-scale study of clinical ...... diagnosed with Krabbe disease.

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Large-scale study of clinical ...... diagnosed with Krabbe disease.

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P1476

Large-scale study of clinical ...... diagnosed with Krabbe disease.

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P2093

H Zhang

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J Ye

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L Han

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S Zhao

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W Qiu

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X Gao

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X Gu

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X Zhan

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Y Wang

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P2860

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Insights into Krabbe disease from structures of galactocerebrosidase

Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients

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

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

Automated inference of molecular mechanisms of disease from amino acid substitutions.

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.

History, genetic, and recent advances on 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.

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248-254

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scholarly article

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10.1111/CGE.13071

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28598007

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Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

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P2860

P2860

Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

description

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P1433

P1476

P2093

P2860

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P1433

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P31

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P433

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P577

P698