β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

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β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

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β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

@nl

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Item

label

β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

@en

β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

@nl

prefLabel

β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

@en

β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

@nl

P1476

β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

@en

P2093

Jonathan A Bernstein

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Sylvie Casson-Parkin

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Tereza Moore

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Tina M Cowan

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P2860

Crystal Structure of Human -Galactosidase: STRUCTURAL BASIS OF GM1 GANGLIOSIDOSIS AND MORQUIO B DISEASES

Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein

beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis

Identification of Glu-268 as the catalytic nucleophile of human lysosomal beta-galactosidase precursor by mass spectrometry.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

P304

77-79

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P31

scholarly article

case report

P356

10.1007/8904_2012_145

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P478

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P577

2012-04-22T00:00:00Z

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P698

23430499

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P932

3575039

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