Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme replacement therapy

The impact of laronidase treatment in otolaryngological manifestations of patients with mucopolysaccharidosis

(2016) Ana Paula Fiuza Funicello Dualibi et al.   Brazilian Journal of Otorhinolaryngology

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study

(2015) M. Aldenhoven et al.   BLOOD

Adenoids of patients with mucopolysaccharidoses demonstrate typical alterations

(2015) Annerose Keilmann et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial

(2015) Christian J. Hendriksz et al.   MOLECULAR GENETICS AND METABOLISM

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I

(2015) Jonathan M. Heppner et al.   MOLECULAR GENETICS AND METABOLISM

IL-6 as a keystone cytokine in health and disease

(2015) Christopher A Hunter et al.   NATURE IMMUNOLOGY

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome

(2015) Abhijit Ricky Pal et al.   Orphanet Journal of Rare Diseases

Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I

(2014) Pamela Arn et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway

(2014) Burhanettin Gönüldaş et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

(2014) Christian J. Hendriksz et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Bacterial superinfection following lung inflammatory disorders

(2013) Maryam Habibzay et al.   Future Microbiology

Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity

(2013) Louise D. Archer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Busulfan Conditioning Enhances Engraftment of Hematopoietic Donor-derived Cells in the Brain Compared With Irradiation

(2013) Fiona L Wilkinson et al.   MOLECULAR THERAPY

Myeloid/Microglial Driven Autologous Hematopoietic Stem Cell Gene Therapy Corrects a Neuronopathic Lysosomal Disease

(2013) Ana Sergijenko et al.   MOLECULAR THERAPY

Respiratory and sleep disorders in mucopolysaccharidosis

(2012) Kenneth I. Berger et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Macrophage-Mediated Inflammation and Disease: A Focus on the Lung

(2012) Emily Gwyer Findlay et al.   MEDIATORS OF INFLAMMATION

Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice

(2012) Alexander Langford-Smith et al.   MOLECULAR THERAPY

Mucopolysaccharidosis type I (Hurler syndrome) and anesthesia: the impact of bone marrow transplantation, enzyme replacement therapy, and fiberoptic intubation on airway management

(2012) Katherine Kirkpatrick et al.   PEDIATRIC ANESTHESIA

Bronchoscopy and airway management in patients with mucopolysaccharidoses (MPS)

(2012) Marianne S. Muhlebach et al.   PEDIATRIC PULMONOLOGY

Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB

(2012) Fiona L. Wilkinson et al.   PLoS One

The Airway Epithelium: Soldier in the Fight against Respiratory Viruses

(2011) M. Vareille et al.   CLINICAL MICROBIOLOGY REVIEWS

Mucopolysaccharidosis Type I, Unique Structure of Accumulated Heparan Sulfate and IncreasedN-Sulfotransferase Activity in Mice Lacking α-l-iduronidase

(2011) Rebecca J. Holley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lowering the Threshold of Lung Innate Immune Cell Activation Alters Susceptibility to Secondary Bacterial Superinfection

(2011) John Goulding et al.   JOURNAL OF INFECTIOUS 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

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

Respiratory Manifestations in Mucopolysaccharidoses

(2010) Marianne S. Muhlebach et al.   Paediatric Respiratory Reviews

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

The mucopolysaccharidoses: a success of molecular medicine

(2008) Lorne A. Clarke   EXPERT REVIEWS IN MOLECULAR MEDICINE

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

(2008) Paul Harmatz et al.   MOLECULAR GENETICS AND METABOLISM

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols

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

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

Mucopolysaccharidosis I: Management and Treatment Guidelines

(2008) J. Muenzer et al.   PEDIATRICS

Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice

(2008) Jérôme Ausseil et al.   PLoS One

Mechanism of Glycosaminoglycan-Mediated Bone and Joint Disease

(2007) Calogera M. Simonaro et al.   AMERICAN JOURNAL OF PATHOLOGY