(Q42581325)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

3

Edward H Schuchman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Laura Rodríguez-Pascau

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Laura Gort

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Lluïsa Vilageliu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Amparo Chabás

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

publication date

1 July 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

1117-1122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

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

27 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

Occurrence of two molecular forms of human acid sphingomyelinase

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2760245

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

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19405096

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19405096

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19405096

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19405096%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

PubMed publication ID

19405096

1 reference