4.6 Review

Is it Fabry disease?

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

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Fabry disease: The α-galactosidase A (GLA) c.427G>A (A143T) mutation, effect of the 5′-10C>T polymorphism

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Markus Niemann et al.

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Gabriela Pasqualim et al.

CLINICAL BIOCHEMISTRY (2014)

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Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Turid Apelland et al.

HEART (2014)

Article Genetics & Heredity

Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A-10T genotype

Michael Schelleckes et al.

ORPHANET JOURNAL OF RARE DISEASES (2014)

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Risk of Death in Heart Disease is Associated With Elevated Urinary Globotriaosylceramide

Raphael Schiffmann et al.

JOURNAL OF THE AMERICAN HEART ASSOCIATION (2014)

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Takahito Inoue et al.

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E. F. Wallin et al.

CLINICAL NEPHROLOGY (2011)

Article Cardiac & Cardiovascular Systems

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

Ole Havndrup et al.

EUROPEAN JOURNAL OF HEART FAILURE (2010)

Article Cardiac & Cardiovascular Systems

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

Hsiang-Yu Lin et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2009)

Article Urology & Nephrology

Screening for Fabry disease in patients with chronic kidney disease: Limitations of plasma alpha-galactosidase assay as a screening test

Jason Andrade et al.

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2008)

Article Multidisciplinary Sciences

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Johannes M. Aerts et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Cardiac & Cardiovascular Systems

Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy

Lorenzo Monserrat et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2007)

Article Pathology

Cellular and tissue localization of globotriaosylceramide in Fabry disease

Hasan Askari et al.

VIRCHOWS ARCHIV (2007)

Article Genetics & Heredity

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

Marco Spada et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Clinical Neurology

Effect of genetic modifiers on cerebral lesions in Fabry disease

G Altarescu et al.

NEUROLOGY (2005)

Article Medical Laboratory Technology

Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes

M Fuller et al.

CLINICAL CHEMISTRY (2005)

Article Endocrinology & Metabolism

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma

R Froissart et al.

MOLECULAR GENETICS AND METABOLISM (2003)

Article Cardiac & Cardiovascular Systems

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

B Sachdev et al.

CIRCULATION (2002)

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Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways

J Vockley et al.

MOLECULAR GENETICS AND METABOLISM (2000)