Natural history of Fabry disease in females in the Fabry Outcome Survey. (Q36927219)

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8 January 2020

title

Natural history of Fabry disease in females in the Fabry Outcome Survey (English)

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8 January 2020

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4

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8 January 2020

author name string

P B Deegan

1

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8 January 2020

A F Baehner

2

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8 January 2020

M-A Barba Romero

3

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8 January 2020

C Kampmann

5

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8 January 2020

M Beck

6

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8 January 2020

European FOS Investigators

7

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language of work or name

English

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publication date

14 October 2005

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Journal of Medical Genetics

8 January 2020

published in

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8 January 2020

volume

43

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8 January 2020

issue

4

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8 January 2020

page(s)

347-352

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Inheritance of most X-linked traits is not dominant or recessive, just X-linked

8 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563231

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

29 September 2017

1 reference

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Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

29 September 2017

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National Kidney Foundation practice guidelines for chronic kidney disease: evaluation, classification, and stratification

29 September 2017

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Pain assessment: the advantages of using pain scales in lysosomal storage diseases

29 September 2017

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

29 September 2017

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EQ-5D: a measure of health status from the EuroQol Group

29 September 2017

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

29 September 2017

1 reference

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Enzyme replacement therapy in Fabry disease: a randomized controlled trial

29 September 2017

1 reference

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X-chromosome inactivation

29 September 2017

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Prevalence of lysosomal storage disorders

29 September 2017

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Pain assessment: global use of the Brief Pain Inventory

29 September 2017

1 reference

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Practical limitations of epidemiologic methods

29 September 2017

1 reference

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Validation of the Brief Pain Inventory for chronic nonmalignant pain.

29 September 2017

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Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings.

27 June 2018

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The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy

27 June 2018

1 reference

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Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study

4 September 2018

1 reference

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Clinical presentation in female patients with Fabry disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563231

Cardiac manifestations of Anderson-Fabry disease in heterozygous females

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563231

Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563231

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563231

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16227523

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Natural history of Fabry disease in affected males and obligate carrier females

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16227523

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16227523

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2005.036327

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227523%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227523%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

16227523

1 reference