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Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
Bruno Bembi et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
Anupam Chakrapani et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial
S. Strothotte et al.
JOURNAL OF NEUROLOGY (2010)
Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations
Francesca Girolami et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2010)
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program
Paul Labrousse et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease
Baodong Sun et al.
MOLECULAR THERAPY (2010)
Gel-mediated Delivery of AAV1 Vectors Corrects Ventilatory Function in Pompe Mice With Established Disease
Cathryn S. Mah et al.
MOLECULAR THERAPY (2010)
FUNCTIONAL PERFORMANCE AND MUSCLE STRENGTH PHENOTYPES IN MEN AND WOMEN WITH DANON DISEASE
Jennifer E. Stevens-Lapsley et al.
MUSCLE & NERVE (2010)
Effect of enzyme therapy in juvenile patients with Pompe disease A three-year open-label study
C. I. van Capelle et al.
NEUROMUSCULAR DISORDERS (2010)
A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease.
Ans T. van der Ploeg et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Fabry disease
Dominique P. Germain
ORPHANET JOURNAL OF RARE DISEASES (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)
Sudden Deaths in Young Competitive Athletes Analysis of 1866 Deaths in the United States, 1980-2006
Barry J. Maron et al.
CIRCULATION (2009)
Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice
W. Glenn L. Kerrick et al.
FASEB JOURNAL (2009)
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
Marc Nicolino et al.
GENETICS IN MEDICINE (2009)
High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population
Shingo Kumamoto et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Glycoengineered Acid alpha-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease
Yunxiang Zhu et al.
MOLECULAR THERAPY (2009)
Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease
Priya S. Kishnani et al.
PEDIATRIC RESEARCH (2009)
Identifying modifier genes of monogenic disease: strategies and difficulties
Emmanuelle Genin et al.
HUMAN GENETICS (2008)
Beyond the sarcomere:: CSRP3 mutations cause hypertrophic cardiomyopathy
Christian Geier et al.
HUMAN MOLECULAR GENETICS (2008)
Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study
Toshhihiro Takenaka et al.
JOURNAL OF CARDIOLOGY (2008)
Contribution of the Myosin Binding Protein C Motif to Functional Effects in Permeabilized Rat Trabeculae
Maria V. Razumova et al.
JOURNAL OF GENERAL PHYSIOLOGY (2008)
Lysosomal storage disease 3 - Fabry's disease
Yuri A. Zarate et al.
LANCET (2008)
Clinical features of late-onset Pompe disease: A prospective cohort study
John H. J. Wokke et al.
MUSCLE & NERVE (2008)
Extension of the clinical spectrum of Danon disease
A. J. van der Kooi et al.
NEUROLOGY (2008)
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)
Heart in Anderson-Fabry disease and other lysosomal storage disorders
Ales Linhart et al.
HEART (2007)
Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors
Cathryn Mah et al.
MOLECULAR THERAPY (2007)
Recombinant human acid α-glucosidase -: Major clinical benefits in infantile-onset Pompe disease
P. S. Kishnani et al.
NEUROLOGY (2007)
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
Priya S. Kishnani et al.
JOURNAL OF PEDIATRICS (2006)
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children
Z Yang et al.
CIRCULATION (2005)
The variation of morphological and functional cardiac manifestation in Fabry disease:: potential implications for the time course of the disease
F Weidemann et al.
EUROPEAN HEART JOURNAL (2005)
Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter
BD Sun et al.
MOLECULAR THERAPY (2005)
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene
O Musumeci et al.
NEUROMUSCULAR DISORDERS (2005)
Danon's disease as a cause of hypertrophic cardiomyopathy:: a systematic survey
P Charron et al.
HEART (2004)
Binding of myosin binding protein-C to myosin subfragment S2 affects contractility independent of a tether mechanism
SP Harris et al.
CIRCULATION RESEARCH (2004)
Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: An independent marker of sudden death risk in young patients
L Monserrat et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature
HMP van den Hout et al.
PEDIATRICS (2003)
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy
M Arad et al.
CIRCULATION (2003)
Mannose 6-phosphate receptors: New twists in the tale
P Ghosh et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2003)
Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease - Evidence for a disease specific abnormality of the myocardial interstitium
JCC Moon et al.
EUROPEAN HEART JOURNAL (2003)
Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors
TJ Fraites et al.
MOLECULAR THERAPY (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)
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
I Nishino et al.
NATURE (2000)
Identification of two subtypes of infantile acid maltase deficiency
AE Slonim et al.
JOURNAL OF PEDIATRICS (2000)