(Q33959189)

30 July 2017

title

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

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30 July 2017

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Melissa P Wasserstein

series ordinal

4

object named as

Melissa P Wasserstein

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30 July 2017

6

Edward H Schuchman

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30 July 2017

5

Calogera M Simonaro

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30 July 2017

Jonathan P Desnick

1

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30 July 2017

Jungmin Kim

series ordinal

2

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30 July 2017

Xingxuan He

series ordinal

3

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30 July 2017

language of work or name

English

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publication date

6 April 2010

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30 July 2017

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30 July 2017

volume

16

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30 July 2017

issue

7-8

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30 July 2017

page(s)

316-321

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Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896470

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896470

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896470

Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896470

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896470

Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896470

Occurrence of two molecular forms of human acid sphingomyelinase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896470

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896470

A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896470

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

29 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.2119%2FMOLMED.2010.00017

10.2119/MOLMED.2010.00017

31 March 2020

Identifiers

DOI

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Dimensions Publication ID

30 July 2017

1 reference

https://scigraph.springernature.com/pub.10.2119/molmed.2010.00017

9 September 2019

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30 July 2017

1 reference