(Q34795793)

4 August 2017

title

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

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4 August 2017

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6

Eugen Mengel

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4 August 2017

3

Roberto Giugliani

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4 August 2017

Melissa P Wasserstein

2

object named as

Melissa P Wasserstein

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4 August 2017

1

Margaret M McGovern

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4 August 2017

10

Robert J Desnick

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4 August 2017

Bruno Bembi

4

1 reference

4 August 2017

Marie T Vanier

5

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4 August 2017

Scott E Brodie

7

1 reference

4 August 2017

David Mendelson

8

1 reference

4 August 2017

Gwen Skloot

9

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4 August 2017

Noriko Kuriyama

11

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4 August 2017

Gerald F Cox

12

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4 August 2017

language of work or name

English

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publication date

14 July 2008

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4 August 2017

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4 August 2017

volume

122

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4 August 2017

issue

2

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4 August 2017

page(s)

e341-9

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Combination brain and systemic injections of AAV provide maximal functional and survival benefits in the Niemann-Pick mouse

4 August 2017

cites work

1 reference

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Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

8 July 2018

1 reference

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Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing

8 July 2018

1 reference

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Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

8 July 2018

1 reference

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Sphingolipidomics: high-throughput, structure-specific, and quantitative analysis of sphingolipids by liquid chromatography tandem mass spectrometry

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

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

8 July 2018

1 reference

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Enzyme replacement and enhancement therapies for lysosomal diseases

8 July 2018

1 reference

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Hematopoietic stem cell transplantation for mucopolysaccharidoses and leukodystrophies

8 July 2018

1 reference

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Prevalence of lysosomal storage diseases in Portugal

8 July 2018

1 reference

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Enzyme therapy for lysosomal storage disease: principles, practice, and prospects

8 July 2018

1 reference

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The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Pulmonary involvement in Niemann-Pick disease: case report and literature review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

The frequency of lysosomal storage diseases in The Netherlands.

8 July 2018

1 reference

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Prevalence of lysosomal storage disorders

8 July 2018

1 reference

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Reference equations for the six-minute walk in healthy adults

8 July 2018

1 reference

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Canadian-French, German and UK versions of the Child Health Questionnaire: methodology and preliminary item scaling results

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Cholesterol in the prediction of atherosclerotic disease. New perspectives based on the Framingham study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Lipid abnormalities in children with types A and B Niemann Pick disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Ocular manifestations of Niemann-Pick disease type B.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Growth restriction in children with type B Niemann-Pick disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

The factor structure of the SF-36 Health Survey in 10 countries: results from the IQOLA Project. International Quality of Life Assessment

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692309

Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

26 October 2018

1 reference

12 December 2020

Affinity generation of single-stranded DNA for dideoxy sequencing following the polymerase chain reaction

1 reference

12 December 2020

Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease

1 reference

12 December 2020

Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease

1 reference

12 December 2020

Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon

1 reference

12 December 2020

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

1 reference

12 December 2020

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

1 reference

12 December 2020

Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers)

1 reference

12 December 2020

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease

1 reference

12 December 2020

Identifiers

DOI

10.1542/PEDS.2007-3016

1 reference

release_mfrbywqe2rgzjgzoccxdopqe4y

4 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mfrbywqe2rgzjgzoccxdopqe4y

24 November 2022

mapped directly with Wikidata item

PMC publication ID

2692309

1 reference

4 August 2017

1 reference