Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

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Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

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Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

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Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.

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P1476

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

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P2093

Bibi Shahin Shamsian

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Farzaneh Modarresi

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Hassan Dastsooz

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Parvaneh Karimzadeh

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Samaneh Naderi

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Tayebeh Farokhashtiani

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P2860

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases

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

Child neurology: Exaggerated dermal melanocytosis in a hypotonic infant: a harbinger of GM1 gangliosidosis.

Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis.

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

Lysosomal storage disorders: molecular basis and laboratory testing.

Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis.

High-throughput imaging method for direct assessment of GM1 ganglioside levels in mammalian cells

Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.

beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.

P2888

s12881-017-0417-4

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scholarly article

case report

P356

10.1186/S12881-017-0417-4

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P478

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Mohammad Ali Faghihi

Soroor Inaloo

Hamid Nemati

P577

2017-07-17T00:00:00Z

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1090741993

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28716012

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5513107

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