Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience

(2012) Deeksha S. Bali et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

(2012) Yoav H. Messinger et al.   GENETICS IN MEDICINE

Exploring the Use of Pharmacological Chaperone AT3375 Alone and in Combination with Recombinant human ß-Glucosidase for Gaucher Disease

(2012) Richie Khanna et al.   MOLECULAR GENETICS AND METABOLISM

Enzyme Replacement Therapy for Patients with Alpha-Mannosidosis

(2012) Line Borgwardt et al.   MOLECULAR GENETICS AND METABOLISM

Long Term Outcomes of a Phase 1/2, Multicenter, Open-Label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

(2012) Christian Hendriksz et al.   MOLECULAR GENETICS AND METABOLISM

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibody-secreting plasma cells

(2012) Suhrad G. Banugaria et al.   MOLECULAR GENETICS AND METABOLISM

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice

(2012) Elfrida R Benjamin et al.   MOLECULAR THERAPY

Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats

(2012) Dyane Auclair et al.   PEDIATRIC RESEARCH

CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder

(2012) Pericles Calias et al.   PLoS One

Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up

(2011) A Tylki- Szymanska et al.   ACTA PAEDIATRICA

Strategies for Neoglycan Conjugation to Human Acid α-Glucosidase

(2011) Qun Zhou et al.   BIOCONJUGATE CHEMISTRY

Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

(2011) A. Zimran et al.   BLOOD

Intrathecal Enzyme Replacement Therapy for Mucopolysaccharidosis I: Translating Success in Animal Models to Patients

(2011) Patricia I. Dickson et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Gene Therapy for Lysosomal Storage Diseases: Progress, Challenges and Future Prospects

(2011) Sergey S. Seregin et al.   CURRENT PHARMACEUTICAL DESIGN

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

(2011) Suhrad G. Banugaria et al.   GENETICS IN MEDICINE

Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts?

(2011) J. A. Hawkins-Salsbury et al.   HUMAN MOLECULAR GENETICS

Biodistribution and pharmacodynamics of recombinant human alpha-l-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations

(2011) Charles H. Vite et al.   MOLECULAR GENETICS AND METABOLISM

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI

(2011) Mahoko Furujo et al.   MOLECULAR GENETICS AND METABOLISM

A phase 1 trial of recombinant human acid Sphingomyelinase (rhASM) Enzyme replacement therapy in adults with Non-Neuronopathic ASM deficiency (ASMD Niemann-Pick B)

(2011) Margaret McGovern et al.   MOLECULAR GENETICS AND METABOLISM

An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions

(2011) Areeg H. El-Gharbawy et al.   MOLECULAR GENETICS AND METABOLISM

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

(2011) Dwight D. Koeberl et al.   MOLECULAR GENETICS AND METABOLISM

Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry

(2011) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM

Initial experience in the treatment of inherited mitochondrial disease with EPI-743

(2011) Gregory M. Enns et al.   MOLECULAR GENETICS AND METABOLISM

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders

(2011) Carla EM Hollak et al.   Orphanet Journal of Rare Diseases

Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at diagnosis in patients with Mucopolysaccharidosis type I: results of a European consensus procedure

(2011) Minke H de Ru et al.   Orphanet Journal of Rare Diseases

Anti-TNF-Alpha Therapy Enhances the Effects of Enzyme Replacement Therapy in Rats with Mucopolysaccharidosis Type VI

(2011) Efrat Eliyahu et al.   PLoS One

Therapy for the mucopolysaccharidoses

(2011) V. Valayannopoulos et al.   RHEUMATOLOGY

Overview of the mucopolysaccharidoses

(2011) J. Muenzer   RHEUMATOLOGY

Orthopaedic aspects of mucopolysaccharidoses

(2011) K. K. White   RHEUMATOLOGY

Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience

(2010) A. Zimran et al.   BLOOD

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

(2010) E. Lukina et al.   BLOOD

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

(2010) Richie Khanna et al.   FEBS Journal

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

(2010) Roberto Giugliani et al.   GENETICS AND MOLECULAR BIOLOGY

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

(2010) Joseph Muenzer et al.   GENETICS IN MEDICINE

Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease

(2010) Behzad Najafian et al.   KIDNEY INTERNATIONAL

Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology

(2010) Thomas Kirkegaard et al.   NATURE

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

New Strategies for Enzyme Replacement Therapy for Lysosomal Storage Diseases

(2010) Jeffrey H. Grubb et al.   REJUVENATION RESEARCH

Use of a Modified α-N-Acetylgalactosaminidase in the Development of Enzyme Replacement Therapy for Fabry Disease

(2009) Youichi Tajima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study

(2009) JJ McGill et al.   CLINICAL GENETICS

Enzyme Replacement Therapy for Fabry Disease

(2009) Roland M. Schaefer et al.   DRUGS

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

(2009) Marc Nicolino et al.   GENETICS IN MEDICINE

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

(2009) S. Strothotte et al.   JOURNAL OF NEUROLOGY

Effective Desensitization to Imiglucerase in a Patient with Type I Gaucher Disease

(2009) Diego G. Peroni et al.   JOURNAL OF PEDIATRICS

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

(2009) Priya S Kishnani et al.   PEDIATRIC RESEARCH

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

(2009) Y.-H. Chien et al.   PEDIATRICS

Enzyme-Replacement Therapy in a 5-Month-Old Boy With Attenuated Presymptomatic MPS I: 5-Year Follow-up

(2009) O. Gabrielli et al.   PEDIATRICS

Involvement of the Toll-like receptor 4 pathway and use of TNF-  antagonists for treatment of the mucopolysaccharidoses

(2009) C. M. Simonaro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Randomized, controlled trial of miglustat in Gaucher's disease type 3

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3

(2008) Anouk C. Vedder et al.   MOLECULAR GENETICS AND METABOLISM

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS

Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I

(2008) L. A. Clarke et al.   PEDIATRICS

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

(2007) D A Hughes et al.   HEART

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

(2007) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM