(Q77529217)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

C Whybra

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

C Kampmann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

I Willers

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

J Davies

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

B Winchester

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

J Kriegsmann

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

K Brühl

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

A Gal

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

S Bunge

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

M Beck

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

publication date

1 December 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

6 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

page(s)

715-724

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11804208%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1012993305223

6 December 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

On the diagnosis of Fabry's disease

1 reference

12 December 2020

A case of Fabry's disease associated with lupus nephritis

1 reference

12 December 2020

A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody

1 reference

12 December 2020

The ultrastructural changes in renal biopsy compatible with Fabry's disease. Case report

1 reference

12 December 2020

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

1 reference

12 December 2020

Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study

1 reference

12 December 2020

A characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygote

1 reference

12 December 2020

Kidney involvement in systemic lupus erythematosus and Fabry's disease

1 reference

12 December 2020

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

1 reference

12 December 2020

Biopsy-proven cardiomyopathy in heterozygous Fabry's disease

1 reference

12 December 2020

Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjects

1 reference

12 December 2020

Psychiatric disorders in patients with Fabry's disease

1 reference

12 December 2020

Early acroparesthesia in females: a sign disclosing heterozygote Fabry disease

1 reference

12 December 2020

A 19-year-old female with fever, acroparesthesia, and progressive deterioration of renal function

1 reference

12 December 2020

[Contribution to Fabry's disease]

1 reference

12 December 2020

The Ocular Manifestations in Fabry's Disease

1 reference

12 December 2020

Fabry's disease in a heterozygous woman

1 reference

12 December 2020

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

1 reference

12 December 2020

Further Associations of Congenital Heart Disease and Genetic Syndromes: Report of a Case of Tetralogy of Fallot and Fabry’s Disease

1 reference

12 December 2020

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

1 reference

12 December 2020

Dynamic left ventricular arterial pressure gradient and sick sinus syndrome with heterozygous Fabry's disease improved following implantation of a dual chamber pacemaker

1 reference

12 December 2020

Physical mapping shows close linkage between the alpha-galactosidase A gene (GLA) and the DXS178 locus.

1 reference

12 December 2020

Characterization of a Blood Group B Glycolipid, Accumulating in the Pancreas of a Patient with Fabry's Disease

1 reference

12 December 2020

Fifteen-year follow-up of a heterozygous Fabry's disease patient associated with pre-excitation syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Sudden death in elderly women with Fabry's disease

1 reference

12 December 2020

Fabry-like laminated myelin body associated with IgA nephropathy

1 reference

12 December 2020

Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy.

1 reference

12 December 2020

Cerebrovascular manifestations in a female carrier of Fabry's disease

1 reference

12 December 2020

Neurological manifestations of fabry disease in female carriers

1 reference

12 December 2020

Different phenotypic expression in relatives with fabry disease caused by a W226X mutation

1 reference

12 December 2020

Coexistence of Fabry's disease and necrotizing and crescentic glomerulonephritis

1 reference

12 December 2020

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female.

1 reference

12 December 2020

Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.

1 reference

12 December 2020

A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations

1 reference

12 December 2020