(Q37434126)

20 August 2017

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease (English)

1 reference

20 August 2017

1 reference

7

Futoshi Shibasaki

1 reference

20 August 2017

Takahiro Tsukimura

1

1 reference

20 August 2017

Sachie Nakano

2

1 reference

20 August 2017

Tadayasu Togawa

3

1 reference

20 August 2017

Toshie Tanaka

4

1 reference

20 August 2017

Seiji Saito

5

1 reference

20 August 2017

Kazuki Ohno

6

1 reference

20 August 2017

Hitoshi Sakuraba

8

1 reference

20 August 2017

2 August 2014

1 reference

Molecular Genetics and Metabolism Reports

20 August 2017

1 reference

20 August 2017

1

1 reference

20 August 2017

288-298

1 reference

Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Fibrosis: a key feature of Fabry disease with potential therapeutic implications

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Analysis of lyso-globotriaosylsphingosine in dried blood spots.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Agalsidase benefits renal histology in young patients with Fabry disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Molecular and structural studies of the GM2 gangliosidosis 0 variant.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Satisfying hydrogen bonding potential in proteins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5121323

Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome

2 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Algorithms for calculating excluded volume and its derivatives as a function of molecular conformation and their use in energy minimization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Accurate modeling of the intramolecular electrostatic energy of proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Calculation of the reaction field due to off-center point multipoles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Analysis and Application of Potential Energy Smoothing and Search Methods for Global Optimization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Polarizable Atomic Multipole Water Model for Molecular Mechanics Simulation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGMR.2014.07.005

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27896103

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGMR.2014.07.005

1 reference

20 August 2017

1 reference

20 August 2017

1 reference