Mucopolysaccharidoses

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

(2012) Jessica de Ruijter et al.   MOLECULAR GENETICS AND METABOLISM

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

(2011) Joseph Muenzer et al.   GENETICS IN MEDICINE

Mobility in Hurler Syndrome

(2011) Colm Taylor et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Musculoskeletal Manifestations of Sanfilippo Syndrome (Mucopolysaccharidosis Type III)

(2011) Klane K. White et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Musculoskeletal manifestations of mucopolysaccharidoses

(2011) K. Morishita et al.   RHEUMATOLOGY

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

Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation

(2010) Kazuko Sukegawa et al.   CLINICAL GENETICS

Clinical findings in 12 patients with MPS IV A (Morquio's disease)

(2010) J. Nelson et al.   CLINICAL GENETICS

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey

(2010) Nancy J. Mendelsohn et al.   GENETICS IN MEDICINE

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

(2010) Joseph Muenzer et al.   GENETICS IN MEDICINE

Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II

(2010) G. Schulze-Frenking et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I

(2010) Janet A. Thomas et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mucopolysaccharidosis VI

(2010) Vassili Valayannopoulos et al.   Orphanet Journal of Rare Diseases

Musculoskeletal manifestations of lysosomal storage disorders

(2009) M Aldenhoven et al.   ANNALS OF THE RHEUMATIC DISEASES

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

(2009) JJ McGill et al.   CLINICAL GENETICS

Cervical Stenosis and Spastic Quadriparesis in Morquio Disease (MPS IV)

(2009) Klane K White et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry

(2009) Pamela Arn et al.   JOURNAL OF PEDIATRICS

Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis

(2009) Rolando Cimaz et al.   Pediatric Rheumatology

Ultrasonographic assessment of clinically diagnosed trigger fingers

(2009) Hae-Rim Kim et al.   RHEUMATOLOGY INTERNATIONAL

Transplant Outcomes in Mucopolysaccharidoses

(2009) Vinod K. Prasad et al.   SEMINARS IN HEMATOLOGY

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

(2008) Maria-Veronica Munoz-Rojas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?

(2008) Taiane Vieira et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Musculoskeletal complications encountered in the lysosomal storage disorders

(2008) Gregory M. Pastores   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

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

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

Mechanism of Glycosaminoglycan-Mediated Bone and Joint Disease

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