Adult-onset Krabbe disease in two generations of a Chinese family.

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Adult-onset Krabbe disease in two generations of a Chinese family.

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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

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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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2018年學術文章

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Adult-onset Krabbe disease in two generations of a Chinese family.

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Adult-onset Krabbe disease in two generations of a Chinese family.

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Adult-onset Krabbe disease in two generations of a Chinese family.

@en

Adult-onset Krabbe disease in two generations of a Chinese family.

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Adult-onset Krabbe disease in two generations of a Chinese family.

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Adult-onset Krabbe disease in two generations of a Chinese family.

@nl

P1476

Adult-onset Krabbe disease in two generations of a Chinese family

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P2093

Chuanzhu Yan

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Kunqian Ji

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Lingyi Chi

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Pengfei Lin

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Tongxia Zhang

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Xiuhe Zhao

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Yuying Zhao

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P2860

Structure and organization of the human galactocerebrosidase (GALC) gene

Krabbe disease: genetic aspects and progress toward therapy

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

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

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

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

Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype.

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

History, genetic, and recent advances on Krabbe disease.

Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization.

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174

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P31

scholarly article

P356

10.21037/ATM.2018.04.30

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P433

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P478

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P577

2018-05-01T00:00:00Z

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29951496

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P932

5994525

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