Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

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Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease.Identification of key lipids critical for platelet activation by comprehensive analysis of the platelet lipidome

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P2860

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

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http://www.wikidata.org/entity/Q39240203

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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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name

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

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type

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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

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prefLabel

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

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P1476

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

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P2093

Edward H Schuchman

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Margaret M McGovern

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Olivier Lidove

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Paul Hwu

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Pramod K Mistry

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Creative Commons Attribution-NonCommercial-NoDerivatives

P2860

Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates

The human chitotriosidase gene. Nature of inherited enzyme deficiency

The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B.

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

Newborn screening for lysosomal storage diseases

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.

P2888

gim.2017.7

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10.1038/GIM.2017.7

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English

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Roberto Giugliani

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Melissa P Wasserstein

Zoltan Lukacs

Karl Eugen Mengel

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2017-04-13T00:00:00Z

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Niemann-Pick disease type B

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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

about

P2860

P2860

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

description

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type

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P1476

P2093

P275

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