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Involvement of the Toll-like receptor 4 pathway and use of TNF-α antagonists for treatment of the mucopolysaccharidoses
Calogera M. Simonaro et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Orthopedic manifestations in patients with muco polysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey
Bianca Link et al.
ORTHOPEDIC REVIEWS (2010)
IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice
Vinicia Assunta Polito et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Secondary lipid accumulation in lysosomal disease
Steven U. Walkley et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses
Vlasta Fesslova et al.
CARDIOLOGY IN THE YOUNG (2009)
Mucopolysaccharidosis VI: the Italian experience
Maurizio Scarpa et al.
EUROPEAN JOURNAL OF PEDIATRICS (2009)
Heparan sulfate proteoglycans in extravasation: assisting leukocyte guidance
Johanna W. A. M. Celie et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2009)
Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years
Nathalie Guffon et al.
JOURNAL OF PEDIATRICS (2009)
Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation
Ken Araya et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2009)
Mucopolysaccharidosis I: Management and Treatment Guidelines
Joseph Muenzer et al.
PEDIATRICS (2009)
The clinical outcome of Hurler syndrome after stem cell transplantation
Mieke Aldenboven et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2008)
Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndrome
Dao Pan et al.
BRAIN RESEARCH (2008)
Development of the Corneal Stroma, and the Collagen-Proteoglycan Associations That Help Define Its Structure and Function
Andrew J. Quantock et al.
DEVELOPMENTAL DYNAMICS (2008)
Initial report from the Hunter Outcome Survey
J. Edmond Wraith et al.
GENETICS IN MEDICINE (2008)
Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed
S. Al Sawaf et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Recognition and diagnosis of Mucopolysaccharidosis II (Hunter syndrome)
Rick Martin et al.
PEDIATRICS (2008)
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
J. Edmond Wraith et al.
EUROPEAN JOURNAL OF PEDIATRICS (2008)
Enzyme reconstitution/replacement therapy for lysosomal storage diseases
T. Andrew Burrow et al.
CURRENT OPINION IN PEDIATRICS (2007)
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)
A. R. Garcia et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients
T. Ochiai et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2007)
The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis
Claus Ruehland et al.
FEBS JOURNAL (2007)
Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II
Antony R. Garcia et al.
MOLECULAR GENETICS AND METABOLISM (2007)
The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
Gregory M. Pastores et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Heparan sulphate proteoglycans fine-tune mammalian physiology
Joseph R. Bishop et al.
NATURE (2007)
Mucopolysaccharidosis type II: an update on mutation spectrum
Roseline Froissart et al.
ACTA PAEDIATRICA (2007)
A clinical study of 77 patients with mucopolysaccharidosis type II
Ida V. D. Schwartz et al.
ACTA PAEDIATRICA (2007)
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)
Joseph Muenzer et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Glycosylation in cellular mechanisms of health and disease
Kazuaki Ohtsubo et al.
CELL (2006)
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy
Eyvind Rodahl et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2006)
Multiprotein signalling complexes: regional assembly on heparan sulphate
J. T. Gallagher
BIOCHEMICAL SOCIETY TRANSACTIONS (2006)
A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates
M Fuller et al.
GLYCOBIOLOGY (2006)
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery
M Cardone et al.
HUMAN MOLECULAR GENETICS (2006)
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts
A Friso et al.
JOURNAL OF GENE MEDICINE (2005)
Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells
CD Pan et al.
BLOOD (2005)
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene
C Bredrup et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Prediction of neuropathology in mucopolysaccharidosis I patients
M Fuller et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses
S Tomatsu et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
ACMM Azevedo et al.
CLINICAL GENETICS (2004)
Secondary accumulation of gangliosides in lysosomal storage disorders
SU Walkley
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2004)
Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
R McGlynn et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2004)
The effect of haematopoietic stem cell transplant on papules with 'pebbly' appearance in Hunter's syndrome
K Ito et al.
BRITISH JOURNAL OF DERMATOLOGY (2004)
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome
SL Staba et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Mammalian brain morphogenesis and midline axon guidance require heparan sulfate
M Inatani et al.
SCIENCE (2003)
Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses
M Hochuli et al.
NMR IN BIOMEDICINE (2003)
Dermatan sulfate: new functions from an old glycosaminoglycan
JM Trowbridge et al.
GLYCOBIOLOGY (2002)
Cardiac structural involvement in mucopolysaccharidoses
D Rigante et al.
CARDIOLOGY (2002)
Heparan sulphate proteoglycan in scleromyxedema promotes FGF-2 activity
TF Warner et al.
PATHOLOGY RESEARCH AND PRACTICE (2002)
Role of heparan sulfate as a tissue-specific regulator of FGF-4 and FGF receptor recognition
BL Allen et al.
JOURNAL OF CELL BIOLOGY (2001)
Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation
T Seto et al.
ANNALS OF NEUROLOGY (2001)