Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial (Q35587768)

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scientific article published on 8 May 2015

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English	Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial	scientific article published on 8 May 2015

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scholarly article

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Europe PubMed Central

PubMed publication ID

9 August 2017

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial (English)

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9 August 2017

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Daniel-G. Bichet

3

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11 June 2020

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11 June 2020

Anna Tylki-Szymańska

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11 June 2020

Beth L. Thurberg

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Beth L Thurberg

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11 June 2020

Frits A Wijburg

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Frits A Wijburg

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11 June 2020

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Bernard Bénichou

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11 June 2020

Gabriela Dostalova

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11 June 2020

Alejandro Fainboim

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11 June 2020

Andreas Fellgiebel

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11 June 2020

Cassiano Forcelini

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11 June 2020

Kristina An Haack

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11 June 2020

Robert J Hopkin

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11 June 2020

Michael Mauer

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11 June 2020

Behzad Najafian

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11 June 2020

C Ronald Scott

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11 June 2020

Suma P Shankar

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11 June 2020

Camilla Tøndel

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11 June 2020

Uma Ramaswami

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11 June 2020

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8 May 2015

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9 August 2017

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11 June 2020

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11 June 2020

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11 June 2020

e0124987

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11 June 2020

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Creative Commons Attribution 4.0 International

8 May 2015

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Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease

1 reference

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12 July 2018

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

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12 July 2018

Early cardiac changes in children with anderson-fabry disease

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12 July 2018

Foot process effacement with normal urinalysis in classic fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Agalsidase benefits renal histology in young patients with Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Kidney function reference values in US adolescents: National Health And Nutrition Examination Survey 1999-2008

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12 July 2018

Quantitating Glomerular Endothelial Fenestration: An Unbiased Stereological Approach

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12 July 2018

Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease

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12 July 2018

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

1 reference

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12 July 2018

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

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12 July 2018

Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).

1 reference

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12 July 2018

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry

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12 July 2018

A new equation to estimate glomerular filtration rate

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12 July 2018

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

New equations to estimate GFR in children with CKD

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12 July 2018

Albumin excretion rate in normal adolescents: relation to insulin resistance and cardiovascular risk factors and comparisons to type 1 diabetes mellitus patients

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12 July 2018

Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease

1 reference

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12 July 2018

Impaired health-related quality of life in children and adolescents with chronic conditions: a comparative analysis of 10 disease clusters and 33 disease categories/severities utilizing the PedsQL 4.0 Generic Core Scales

1 reference

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12 July 2018

Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

1 reference

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12 July 2018

Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe

1 reference

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12 July 2018

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Plasma clearance of nonradioactive iohexol as a measure of glomerular filtration rate.

1 reference

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12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Early renal changes in hemizygous and heterozygous patients with Fabry's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

12 July 2018

Gastrointestinal phenotype of fabry disease in a patient with pseudoobstruction syndrome.

1 reference

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26 September 2018

Fabry disease in children: agalsidase-beta enzyme replacement therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Monitoring the 3-year efficacy of enzyme replacement therapy in fabry disease by repeated skin biopsies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425695

26 September 2018

Mutation analysis in patients with the typical form of Anderson-Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Podocyte detachment and reduced glomerular capillary endothelial fenestration in human type 1 diabetic nephropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene symbol: GLA

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: 20 novel GLA mutations in 35 families

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme replacement therapy for Fabry disease: proving the clinical benefit

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/25955246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0124987

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25955246%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

2015PLoSO..1024987W

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1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25955246%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25955246%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

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