(Q35137971)

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Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis

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scholarly article

1 reference

Europe PubMed Central

6 August 2017

Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis (English)

1 reference

Europe PubMed Central

6 August 2017

Sandhoff disease

1 reference

based on heuristic

inferred from title

object named as

Patricia Hall

2

0 references

6

object named as

Denis Lehotay

1 reference

Europe PubMed Central

6 August 2017

author name string

Braden Fitterer

1

1 reference

Europe PubMed Central

6 August 2017

Nick Antonishyn

3

1 reference

Europe PubMed Central

6 August 2017

Rajagopal Desikan

4

1 reference

Europe PubMed Central

6 August 2017

Michael Gelb

5

1 reference

Europe PubMed Central

6 August 2017

publication date

13 January 2014

1 reference

Europe PubMed Central

6 August 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

6 August 2017

111

1 reference

Europe PubMed Central

6 August 2017

3

1 reference

Europe PubMed Central

6 August 2017

382-389

1 reference

Europe PubMed Central

6 August 2017

Predicting the functional effect of amino acid substitutions and indels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

The X-ray Crystal Structure of Human β-Hexosaminidase B Provides New Insights into Sandhoff Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Pre-mRNA splicing and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Biochemical consequences of mutations causing the GM2 gangliosidoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Prevalence of lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Carrier detection in Sandhoff disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

28 July 2018

A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

27 September 2018

Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

27 September 2018

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4346577

27 September 2018

GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.002

7 January 2021

A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.002

7 January 2021

Categorical discriminant analysis of 3'-splice site signals of mRNA precursors in higher eukaryote genes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.002

7 January 2021

A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.002

7 January 2021

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.002

7 January 2021

Prenatal diagnosis of infantile GM 2 gangliosidosis type II (Sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.01.002

7 January 2021

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population

1 reference

https://pubmed.ncbi.nlm.nih.gov/24461908

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1016/J.YMGME.2014.01.002

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

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