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Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-357, Article 357

2023

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Surgical management of neurological manifestations of mucopolysaccharidosis disorders

Molecular genetics and metabolism, 2017-12, Vol.122, p.41-48

2017

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Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.339-355

2013

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Non-invasive assessment of tissue iron overload

Hematology, 2009, Vol.2009 (1), p.215-221

2009

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Increased prevalence of iron‐overload associated endocrinopathy in thalassaemia versus sickle‐cell disease

British journal of haematology, 2006-11, Vol.135 (4), p.574-582

2006

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Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT)

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101041-101041, Article 101041

2024

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Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair

Molecular genetics and metabolism reports, 2022-03, Vol.30, p.100845-100845, Article 100845

2022

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Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

Journal of inherited metabolic disease, 2011-12, Vol.34 (6), p.1183-1197

2011

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Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses

Journal of inborn errors of metabolism and screening, 2018, Vol.6, p.232640981875937

2018

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Anaesthesia and airway management in mucopolysaccharidosis

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.211-219

2013

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Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Molecular genetics and metabolism, 2019-08, Vol.127 (4), p.355-360

2019

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Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.519-526

2019

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The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Molecular genetics and metabolism, 2016-04, Vol.117 (4), p.438-446

2016

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Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.131-143

2016

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Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.122-132

2022

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Pregnancy in patients with mucopolysaccharidosis: a case series

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.111-115

2016

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Mechanisms of plasma non‐transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients

British journal of haematology, 2014-12, Vol.167 (5), p.692-696

2014

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Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.127-134

2018

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Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP)

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.310-318

2016

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Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.375-383

2017

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Spinal cord issues in adult patients with MPS: transition of care survey

Child's nervous system, 2018-09, Vol.34 (9), p.1759-1765

2018

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Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis

British Journal of Ophthalmology, 2011-05, Vol.95 (5), p.613-619

2011

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Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

Journal of inherited metabolic disease, 2016-11, Vol.39 (6), p.839-847

2016

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Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment

Frontiers in bioscience, 2017-01, Vol.22 (3), p.385-406, Article 4490

2017

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Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.186-194

2015

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Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

Surgical management of neurological manifestations of mucopolysaccharidosis disorders

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management

Non-invasive assessment of tissue iron overload

Increased prevalence of iron‐overload associated endocrinopathy in thalassaemia versus sickle‐cell disease

Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT)

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses

Anaesthesia and airway management in mucopolysaccharidosis

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I

Pregnancy in patients with mucopolysaccharidosis: a case series

Mechanisms of plasma non‐transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study

Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP)

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study

Spinal cord issues in adult patients with MPS: transition of care survey

Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome

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