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。Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis
Linda van der Tol et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance
B. E. Smid et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2014)
Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis
Saskia M. Rombach et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
L. van der Tol et al.
JOURNAL OF MEDICAL GENETICS (2014)
Outcomes of patients treated through the Canadian Fabry disease initiative
S. M. Sirrs et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Fabry disease in children: agalsidase-beta enzyme replacement therapy
L. Borgwardt et al.
CLINICAL GENETICS (2013)
2013 ESC guidelines on the management of stable coronary artery disease
Gilles Montalescot et al.
EUROPEAN HEART JOURNAL (2013)
Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications
F. Weidemann et al.
JOURNAL OF INTERNAL MEDICINE (2013)
Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease
Camilla Tondel et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (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)
Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome
Saskia M. Rombach et al.
PLOS ONE (2012)
Safety of agalsidase alfa in patients with Fabry disease under 7 years
U. Ramaswami et al.
ACTA PAEDIATRICA (2011)
Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease
Raphael Schiffmann et al.
JOURNAL OF PEDIATRICS (2010)
Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment
Frank Weidemann et al.
CIRCULATION (2009)
A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on efficacy during enzyme replacement therapy for Fabry disease
Bernard Benichou et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa
D. A. Hughes et al.
HEART (2008)
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)
Safety and efficacy of enzyme replacement therapy with agalsidase beta: An international, open-label study in pediatric patients with Fabry disease
J. Edmond Wraith et al.
JOURNAL OF PEDIATRICS (2008)
Treatment of Fabry Disease: Outcome of a Comparative Trial with Agalsidase Alfa or Beta at a Dose of 0.2 mg/kg
Anouk C. Vedder et al.
PLOS ONE (2007)
Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with Fabry disease
Dominique P. Germain et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Agalsidase-beta therapy for advanced Fabry disease - A randomized trial
Maryam Banikazemi et al.
ANNALS OF INTERNAL MEDICINE (2007)
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease
U. Ramaswami et al.
ACTA PAEDIATRICA (2007)
White matter lesions in Fabry disease before and after enzyme replacement therapy - A 2-year follow-up
Laura B. Jardim et al.
ARQUIVOS DE NEURO-PSIQUIATRIA (2006)
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
Markus Ries et al.
PEDIATRICS (2006)
Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease
Gregory Bierer et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy
L Jardim et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
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)
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
BL Thurberg et al.
KIDNEY INTERNATIONAL (2002)
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
KD MacDermot et al.
JOURNAL OF MEDICAL GENETICS (2001)
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
KD MacDermot et al.
JOURNAL OF MEDICAL GENETICS (2001)
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)
分享论文
