(Q34560209)

English

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up

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scholarly article

1 reference

Europe PubMed Central

3 August 2017

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up (English)

1 reference

Europe PubMed Central

3 August 2017

neuropathic pain

0 references

1 reference

based on heuristic

inferred from title

object named as

Robin H Lachmann

5

0 references

13

object named as

Einar Svarstad

1 reference

Europe PubMed Central

3 August 2017

Camilla Tøndel

9

object named as

Camilla Tøndel

1 reference

Europe PubMed Central

3 August 2017

3

object named as

Gunnar Houge

1 reference

Europe PubMed Central

3 August 2017

8

object named as

Claudia Sommer

1 reference

Europe PubMed Central

3 August 2017

author name string

L van der Tol

1

1 reference

Europe PubMed Central

3 August 2017

David Cassiman

2

1 reference

Europe PubMed Central

3 August 2017

Mirian C Janssen

4

1 reference

Europe PubMed Central

3 August 2017

Gabor E Linthorst

6

1 reference

Europe PubMed Central

3 August 2017

Uma Ramaswami

7

1 reference

Europe PubMed Central

3 August 2017

Michael L West

10

1 reference

Europe PubMed Central

3 August 2017

Frank Weidemann

11

1 reference

Europe PubMed Central

3 August 2017

Frits A Wijburg

12

1 reference

Europe PubMed Central

3 August 2017

Carla Em Hollak

14

1 reference

Europe PubMed Central

3 August 2017

Marieke Biegstraaten

15

1 reference

Europe PubMed Central

3 August 2017

publication date

16 September 2014

1 reference

Europe PubMed Central

3 August 2017

Journal of Inherited Metabolic Disorders Reports

1 reference

Europe PubMed Central

3 August 2017

17

1 reference

Europe PubMed Central

3 August 2017

83-90

1 reference

Europe PubMed Central

3 August 2017

Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

Small fiber neuropathy in Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

2011 consensus statement on endomyocardial biopsy from the Association for European Cardiovascular Pathology and the Society for Cardiovascular Pathology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

High incidence of later-onset fabry disease revealed by newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

Drug-induced corneal complications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 July 2018

The frequency of lysosomal storage diseases in The Netherlands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

7 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=4241201

7 July 2018

Characterization of pain in fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

27 October 2018

Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

27 October 2018

Fabry disease: results of the first UK hemodialysis screening study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

27 October 2018

Fabry or not Fabry--a question of ascertainment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

27 October 2018

The relation between small nerve fibre function, age, disease severity and pain in Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

27 October 2018

Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

27 October 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=4241201

27 October 2018

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241201

27 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25224312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease in patients with end-stage renal failure: the potential benefits of screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/25224312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/25224312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

1 reference

https://pubmed.ncbi.nlm.nih.gov/25224312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/25224312

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/25224312

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/8904_2014_342

1 reference

Europe PubMed Central

3 August 2017

release_v6vnyo64krdkfd5j7k72za3xhu

1 reference

https://api.fatcat.wiki/v0/release/v6vnyo64krdkfd5j7k72za3xhu

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

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