(Q35436303)

8 August 2017

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males (English)

1 reference

8 August 2017

1 reference

K D MacDermot

1

1 reference

8 August 2017

A Holmes

series ordinal

2

1 reference

8 August 2017

A H Miners

series ordinal

3

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 November 2001

1 reference

Journal of Medical Genetics

8 August 2017

1 reference

8 August 2017

38

1 reference

8 August 2017

11

1 reference

8 August 2017

750-760

1 reference

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Assessing health-related quality-of-life in individuals with haemophilia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Prevalence of lysosomal storage disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Complete atrioventricular block disclosing Fabry's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Cerebrovascular complications of Fabry's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Psychiatric disorders in patients with Fabry's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Gastrointestinal structure and function in Fabry's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Angiokeratoma corporis diffusum--Fabry's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Relief of pain of Fabry's disease by diphenylhydantoin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Echocardiographic abnormalities and disease severity in Fabry's disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Carbamazepine in Fabry's disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Fabry's disease presenting with stroke

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Quantitative analysis of cerebral vasculopathy in patients with Fabry disease.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Stroke in Fabry's disease.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734761

Fabry's disease with malocclusion and acromegalic-appearance: clinical and electromicroscopic studies (author's transl)

24 October 2018

1 reference

12 December 2020

Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease

1 reference

12 December 2020

Pathological study of the sural nerve in Fabry's disease

1 reference

12 December 2020

The short-form McGill Pain Questionnaire

1 reference

12 December 2020

[Echocardiographic findings in a case of Fabry's disease with aortic regurgitation and complete AV block, and in his family members]

1 reference

12 December 2020

Vasospastic angina in a patient with Fabry's disease who showed normal coronary angiographic findings

1 reference

12 December 2020

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

1 reference

12 December 2020

Fabry's disease presenting with oligoanuric end-stage renal failure

1 reference

12 December 2020

Quantitative analysis of epidermal innervation in Fabry disease

1 reference

12 December 2020

Current perception threshold testing in Fabry's disease

1 reference

12 December 2020

Angiokeratoma corporis diffusum. A clinical study of eight affected families

1 reference

12 December 2020

Successful treatment of painful crises of Fabry disease with low dose morphine

1 reference

12 December 2020

Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients

1 reference

12 December 2020

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

12 December 2020

Identifiers

DOI

10.1136/JMG.38.11.750

1 reference

8 August 2017

1 reference

8 August 2017

1 reference