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。Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis
Hiroki Maruyama et al.
GENETICS IN MEDICINE (2019)
Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study
Francesca Ferrua et al.
LANCET HAEMATOLOGY (2019)
Comparison of Cardiac Magnetic Resonance Imaging and Echocardiography in Assessment of Left Ventricular Hypertrophy in Fabry Disease
Hassan Hazari et al.
CANADIAN JOURNAL OF CARDIOLOGY (2018)
Fabry disease revisited: Management and treatment recommendations for adult patients
Alberto Ortiz et al.
MOLECULAR GENETICS AND METABOLISM (2018)
European expert consensus statement on therapeutic goals in Fabry disease
Christoph Wanner et al.
MOLECULAR GENETICS AND METABOLISM (2018)
Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia
A. A. Thompson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Lysosomal storage diseases
Frances M. Platt et al.
NATURE REVIEWS DISEASE PRIMERS (2018)
Gene Therapy in a Patient with Sickle Cell Disease
Jean-Antoine Ribeil et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry Disease
Ju Huang et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2017)
Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations - different outcome?
J. Politei et al.
CLINICAL GENETICS (2016)
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat
D. P. Germain et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
Christiane Auray-Blais et al.
CLINICA CHIMICA ACTA (2015)
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
Marieke Biegstraaten et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Multiplex Tandem Mass Spectrometry Analysis of Novel Plasma Lyso-Gb3-Related Analogues in Fabry Disease
Michel Boutin et al.
ANALYTICAL CHEMISTRY (2014)
Multiplex Analysis of Novel Urinary Lyso-Gb3-Related Biomarkers for Fabry Disease by Tandem Mass Spectrometry
Pamela Lavoie et al.
ANALYTICAL CHEMISTRY (2013)
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain
Saskia M. Rombach et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
Alessandra Biffi et al.
SCIENCE (2013)
Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics
Christiane Auray-Blais et al.
ANALYTICAL CHEMISTRY (2012)
Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease
Chyan-Jang Lee et al.
JOURNAL OF CARDIOLOGY (2011)
Stem-Cell Gene Therapy for the Wiskott-Aldrich Syndrome
Kaan Boztug et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry
Stephen Waldek et al.
GENETICS IN MEDICINE (2009)
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)
Correction of cardiac abnormalities in Fabry mice by direct intraventricular injection of a recombinant lentiviral vector that engineers expression of α-galactosidase A
Makoto Yoshimitsu et al.
CIRCULATION JOURNAL (2006)
Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
RJ Desnick et al.
ANNALS OF INTERNAL MEDICINE (2003)
High overexpression of the human α-galactosidase A gene driven by its promoter in transgenic mice:: Implications for the treatment of Fabry disease
GA Ashley et al.
JOURNAL OF INVESTIGATIVE MEDICINE (2002)
Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease.
CM Eng et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Enzyme replacement therapy in Fabry disease - A randomized controlled trial
R Schiffmann et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2001)
A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
CM Eng et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)