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Mortality in patients with Sanfilippo syndrome

Orphanet journal of rare diseases, 2017-10, Vol.12 (1), p.168-168, Article 168

2017

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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Orphanet journal of rare diseases, 2011-11, Vol.6 (1), p.72-72, Article 72

2011

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The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

Orphanet journal of rare diseases, 2008-09, Vol.3 (1), p.24-24, Article 24

2008

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The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.67-73

2016

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Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Orphanet journal of rare diseases, 2017-06, Vol.12 (1), p.117-117, Article 117

2017

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Mortality in Patients with Morquio Syndrome A

JIMD Reports, Volume 15, 2015, Vol.15, p.59-66

2015

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The Burden Endured by Caregivers of Patients With Morquio A Syndrome: Results From an International Patient-Reported Outcomes Survey

Journal of inborn errors of metabolism and screening, 2014-07, Vol.2, p.232640981454087

2014

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Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Orphanet journal of rare diseases, 2015-03, Vol.10 (1), p.36-36, Article 36

2015

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Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

Orphanet journal of rare diseases, 2014-03, Vol.9 (1), p.32-32

2014

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Collaborative working to advance standards of care and the well-being of lysosomal disorder patients and families in the UK

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S33-S33

2018

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Treatment decision making for parents of children with lysosomal disorders in the era of rapidly advancing medical options

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S106-S106

2015

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Pedigree analysis in patients with Fabry disease: Evaluating changes in referral and diagnosis over successive generations

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S70-S70

2015

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Multi-stakeholder engagement leading to access to treatment for MPS IVA (Morquio syndrome type A), a model for the ultra rare disease community

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S115-S115

2017

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Clinical outcomes in Morquio syndrome type A treated with elosulfase alfa: results from the managed access agreement in England

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S67-S67

2018

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A consensus conference for cognitive endpoints for clinical trials and natural history studies in MPS diseases

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S130-S130

2018

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Impact of elosulfase alfa treatment on patient-reported outcomes in Morquio syndrome type A: Results from the first year of a managed access agreement in England

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S83-S84

2018

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Pedigree analysis in patients with Fabry disease: evaluating changes in referral and diagnosis over successive generations

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S66-S66

2014

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Patient organisations working in partnership to research the patient experience of rare diseases: The MPS III survey

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S98-S99

2018

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Raising awareness of lysosomal diseases amongst British medical students

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S70-S71

2015

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From testimonials to qualitative research embedded in an MPS IIIA observational study

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S105-S105

2017

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Supporting the patient and family with mucopolysaccharidosis disorders: the role of patient organizations

Acta Paediatrica, 2007-04, Vol.96 (s455), p.87-87

2007

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Burden of disease suffered by caregivers of patients with Morquio syndrome type A: results from a self-reported outcomes survey

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S65-S65

2014

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Burden of disease suffered by patients with Morquio syndrome type A: results from a patient-reported outcomes survey

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S53-S54

2014

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Mucopolysaccharidosis and Adulthood: Genetics, Inheritance, and Reproductive Options

Journal of child science, 2018-01, Vol.8 (1), p.e138-e143

2018

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Pedigree analysis: A call to action to raise awareness of Fabry disease and the importance of family history evaluation

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S60-S61

2015

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Mortality in patients with Sanfilippo syndrome

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Mortality in Patients with Morquio Syndrome A

The Burden Endured by Caregivers of Patients With Morquio A Syndrome: Results From an International Patient-Reported Outcomes Survey

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

Collaborative working to advance standards of care and the well-being of lysosomal disorder patients and families in the UK

Treatment decision making for parents of children with lysosomal disorders in the era of rapidly advancing medical options

Pedigree analysis in patients with Fabry disease: Evaluating changes in referral and diagnosis over successive generations

Multi-stakeholder engagement leading to access to treatment for MPS IVA (Morquio syndrome type A), a model for the ultra rare disease community

Clinical outcomes in Morquio syndrome type A treated with elosulfase alfa: results from the managed access agreement in England

A consensus conference for cognitive endpoints for clinical trials and natural history studies in MPS diseases

Impact of elosulfase alfa treatment on patient-reported outcomes in Morquio syndrome type A: Results from the first year of a managed access agreement in England

Pedigree analysis in patients with Fabry disease: evaluating changes in referral and diagnosis over successive generations

Patient organisations working in partnership to research the patient experience of rare diseases: The MPS III survey

Raising awareness of lysosomal diseases amongst British medical students

From testimonials to qualitative research embedded in an MPS IIIA observational study

Supporting the patient and family with mucopolysaccharidosis disorders: the role of patient organizations

Burden of disease suffered by caregivers of patients with Morquio syndrome type A: results from a self-reported outcomes survey

Burden of disease suffered by patients with Morquio syndrome type A: results from a patient-reported outcomes survey

Mucopolysaccharidosis and Adulthood: Genetics, Inheritance, and Reproductive Options

Pedigree analysis: A call to action to raise awareness of Fabry disease and the importance of family history evaluation

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