(Q39553514)

English

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

scientific article published on October 1993

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Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

Niemann-Pick disease

1 reference

based on heuristic

inferred from title

author name string

M T Vanier

1

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

K Ferlinz

2

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

R Rousson

3

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

S Duthel

4

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

P Louisot

5

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

K Sandhoff

6

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

K Suzuki

7

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

publication date

1 October 1993

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

92

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

325-330

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

https://scigraph.springernature.com/pub.10.1007/bf01247328

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical and Molecular Aspects of Late-Onset GM2-Gangliosidosis: B1 Variant as a Prototype

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease: new molecular approaches to diagnosis and treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and clinical heterogeneity of adult GM2 gangliosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metabolism of sphingomyelin by intact cultured fibroblasts: differentiation of Niemann-Pick disease type A and B

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease — development and evaluation of a microprocedure

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nieman-Pick disease revealed by a pulmonary miliary tuberculosis (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of acid sphingomyelinase dificiency in a patient with Niemann-Pick disease type A

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type B Niemann-Pick disease and sea-blue histiocytes syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts

1 reference

https://pubmed.ncbi.nlm.nih.gov/8225311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01247328

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

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