Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy. - Test2 - elhamkhani - TriplyDB

Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.

Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.

http://www.wikidata.org/entity/Q35037640

about

Biology of adeno-associated viral vectors in the central nervous system Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.Chaperone-mediated autophagy: selectivity pays off.Chaperone-mediated autophagy in health and disease.Lysosomal storage diseases: heterogeneous group of disorders Enzyme replacement therapy in India: Lessons and insights

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P2860

Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.

http://www.wikidata.org/entity/Q35037640

description

2002 nî lūn-bûn

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2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2002 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.

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Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.

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Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.

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Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.

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Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.

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Genetics in Medicine

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Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.

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David A Wenger

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Shu-Ling Liu

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Stephanie Coppola

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P2860

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Dominant inheritance of sialuria, an inborn error of feedback inhibition

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2

Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats

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Mammalian neural stem cells

New prospects for human stem-cell therapy in the nervous system.

Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome.

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