☆ 4.5 Article

Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families

METABOLIC BRAIN DISEASE (2023)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Article Endocrinology & Metabolism

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene

Vittoria Cianci et al.

Summary: Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene, leading to alpha-galactosidase A deficiency. This article describes the clinical characteristics of a patient with late-onset Fabry disease carrying a previously unidentified GLA gene variant.

METABOLIC BRAIN DISEASE (2022)

添加到收藏夹

Review Endocrinology & Metabolism

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease

Dominique P. Germain et al.

Summary: Fabry disease is a lysosomal disorder that causes the accumulation of glycosphingolipids, leading to organ damage and reduced life expectancy. Treatment goals should be individualized based on the phenotype and severity of the disease. Expert consensus and literature review were used to develop practical clinical recommendations for disease and organ-specific therapeutic goals in Fabry disease.

MOLECULAR GENETICS AND METABOLISM (2022)

添加到收藏夹

Review Medicine, General & Internal

Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features

Giovanni Donato Aquaro et al.

Summary: Fabry disease is an X-linked inheritable storage disease that causes lysosomal overload of sphingolipids. Early diagnosis is crucial for the effective treatment and improved prognosis. Cardiac magnetic resonance can accurately diagnose FD cardiomyopathy.

DIAGNOSTICS (2022)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

Cardiac Involvement in Fabry Disease JACC Review Topic of the Week

Maurizio Pieroni et al.

Summary: Fabry disease is a rare genetic disorder that can lead to cardiovascular complications, including left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias. Early diagnosis and treatment are essential for slowing disease progression and preventing cardiac complications.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2021)

添加到收藏夹

Review Biochemistry & Molecular Biology

Fabry Disease and the Heart: A Comprehensive Review

Olga Azevedo et al.

Summary: Fabry disease is an X-linked lysosomal storage disorder caused by GLA gene mutations, resulting in accumulation of GB3 in cardiac cells and leading to cardiac issues. Despite available therapies, cardiac involvement remains the main cause of death in patients.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

添加到收藏夹

Article Chemistry, Medicinal

Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report

Valeria Di Stefano et al.

Summary: Fabry disease is a rare genetic disorder caused by mutations in the GLA gene, leading to lipid accumulation in various cells. The N215S mutation is associated with cardiac involvement in late-onset phenotypes. This case report describes a patient with N215S mutation who underwent kidney transplantation and was treated with oral pharmacologic chaperone migalastat.

PHARMACEUTICALS (2021)

添加到收藏夹

Article Urology & Nephrology

Screening for Fabry disease in male patients with end-stage renal disease in western France

C. Vigneau et al.

Summary: A prospective screening study in Western France found a prevalence of 0.12% for Fabry disease among male end-stage renal disease patients, questioning the efficacy of the screening strategy due to the low prevalence. However, the screening led to the identification of one patient with a potentially unknown kidney disease. Increased awareness of Fabry disease among participating nephrologists may benefit future patients.

NEPHROLOGIE & THERAPEUTIQUE (2021)

添加到收藏夹

Article Genetics & Heredity

Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males

Joao P. Oliveira et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)

添加到收藏夹

Article Endocrinology & Metabolism

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

Olga Azevedo et al.

MOLECULAR GENETICS AND METABOLISM (2020)

添加到收藏夹

Letter Genetics & Heredity

Renal and brain complications in GLA p.Phe113Leu Fabry disease. Comments on Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males by Oliveira et al. (Eur. J. Med. Genet. 2019)

Alexandra Smirnova et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)

添加到收藏夹

Article Endocrinology & Metabolism

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females

Ashlee R. Stiles et al.

MOLECULAR GENETICS AND METABOLISM (2020)

添加到收藏夹

Article Medicine, General & Internal

When and How to Diagnose Fabry Disease in Clinical Pratice

Martin Michaud et al.

AMERICAN JOURNAL OF THE MEDICAL SCIENCES (2020)

添加到收藏夹

Article Biochemistry & Molecular Biology

Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team

Massimiliano Veroux et al.

BIOMEDICINES (2020)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

Fabry disease in cardiology practice: Literature review and expert point of view

Albert Hagege et al.

ARCHIVES OF CARDIOVASCULAR DISEASES (2019)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease

Rebecca Perry et al.

JACC-CARDIOVASCULAR IMAGING (2019)

添加到收藏夹

Article Endocrinology & Metabolism

Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease

Fahad J. Alharbi et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2018)

添加到收藏夹

Article Endocrinology & Metabolism

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

Albina Nowak et al.

MOLECULAR GENETICS AND METABOLISM (2018)

添加到收藏夹

Review Endocrinology & Metabolism

Fabry disease revisited: Management and treatment recommendations for adult patients

Alberto Ortiz et al.

MOLECULAR GENETICS AND METABOLISM (2018)

添加到收藏夹

Article Multidisciplinary Sciences

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

L. Lavalle et al.

PLOS ONE (2018)

添加到收藏夹

Article Urology & Nephrology

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

Maarten Arends et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease

Daniel Oder et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2017)

添加到收藏夹

Article Clinical Neurology

A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation

Han-Jui Lee et al.

BMC NEUROLOGY (2017)

添加到收藏夹

Article Genetics & Heredity

X-chromosome inactivation in female patients with Fabry disease

L. Echevarria et al.

CLINICAL GENETICS (2016)

添加到收藏夹

Article Clinical Neurology

Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G>A Mutation

H. -J. Lee et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2016)

添加到收藏夹

Review Clinical Neurology

Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features

Michela Ranieri et al.

CURRENT TREATMENT OPTIONS IN NEUROLOGY (2016)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Later Onset Fabry Disease, Cardiac Damage Progress in Silence Experience With a Highly Prevalent Mutation

Ting-Rong Hsu et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics

Valentina Favalli et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)

添加到收藏夹

Review Clinical Neurology

Cerebrovascular Involvement in Fabry Disease Current Status of Knowledge

Edwin Kolodny et al.

STROKE (2015)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study

Albert A. Hagege et al.

HEART (2011)

添加到收藏夹

Article Endocrinology & Metabolism

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group

Andreas Gal et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2011)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Differences in Fabry Cardiomyopathy Between Female and Male Patients Consequences for Diagnostic Assessment

Markus Niemann et al.

JACC-CARDIOVASCULAR IMAGING (2011)

添加到收藏夹

Article Genetics & Heredity

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

Beom Hee Lee et al.

JOURNAL OF HUMAN GENETICS (2010)

添加到收藏夹

Review Genetics & Heredity

Fabry disease

Dominique P. Germain

ORPHANET JOURNAL OF RARE DISEASES (2010)

添加到收藏夹

Article Clinical Neurology

Belgian Fabry Study Prevalence of Fabry Disease in a Cohort of 1000 Young Patients With Cerebrovascular Disease

Raf Brouns et al.

STROKE (2010)

添加到收藏夹

Article Biochemistry & Molecular Biology

Effects of a chemical chaperone on genetic mutations in α-galactosidase A in Korean patients with Fabry disease

Jung-Young Park et al.

EXPERIMENTAL AND MOLECULAR MEDICINE (2009)

添加到收藏夹

Article Clinical Neurology

Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events Natural History Data From the Fabry Registry

Katherine Sims et al.

STROKE (2009)

添加到收藏夹

Article Clinical Neurology

The pulvinar sign: frequency and clinical correlations in Fabry disease

Alessandro P. Burlina et al.

JOURNAL OF NEUROLOGY (2008)

添加到收藏夹

Article Clinical Neurology

Central nervous system involvement in Anderson Fabry disease: a clinical and MRI retrospective study

S. Buechner et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)

添加到收藏夹

Article Endocrinology & Metabolism

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

William R. Wilcox et al.

MOLECULAR GENETICS AND METABOLISM (2008)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Cardiac manifestations of Anderson-Fabry disease results from the international Fabry outcome survey

Ales Linhart et al.

EUROPEAN HEART JOURNAL (2007)

添加到收藏夹

Article Genetics & Heredity

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

Marco Spada et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.