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Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Molecular genetics and metabolism, 2012-07, Vol.106 (3), p.330-344

2012

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Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome)

Expert review of clinical pharmacology, 2016-12, Vol.9 (12), p.1521-1532

Hendriksz, Christian J.

2016

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Challenges in diagnosing and managing adult patients with urea cycle disorders

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1136-1146

2019

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Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.244-254

2016

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A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

Genetics in medicine, 2016-01, Vol.18 (1), p.73-81

2016

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Niemann-Pick disease type C symptomatology: an expert-based clinical description

Orphanet journal of rare diseases, 2013-10, Vol.8 (1), p.166-166

2013

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International guidelines for the management and treatment of Morquio A syndrome

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.11-25

2015

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Consensus clinical management guidelines for Niemann-Pick disease type C

Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.50-50, Article 50

2018

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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

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.979-990

2014

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Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

Journal of clinical medicine, 2020-08, Vol.9 (8), p.2596

2020

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Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom

PloS one, 2018-02, Vol.13 (2), p.e0191945-e0191945

2018

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Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses

Molecular genetics and metabolism, 2020-06, Vol.130 (2), p.133-139

2020

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Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.152-160

2018

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Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome)

Cochrane database of systematic reviews, 2018-03, Vol.2018 (3)

2018

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Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages

Molecular genetics and metabolism, 2017-03, Vol.120 (3), p.180-189

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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The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.54-61

2013

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Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.309-322

2013

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Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

Orphanet journal of rare diseases, 2020-05, Vol.15 (1), p.114-114, Article 114

2020

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Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.137-137, Article 137

2019

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Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey

Molecular genetics and metabolism reports, 2019-09, Vol.20, p.100480-100480, Article 100480

2019

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The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

Genes, 2021-11, Vol.12 (11), p.1837

2021

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Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Orphanet journal of rare diseases, 2016-08, Vol.11 (1), p.119-119, Article 119

2016

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Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.373-384

2013

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Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria

Molecular genetics and metabolism reports, 2023-12, Vol.37, p.101012-101012, Article 101012

2023

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Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome)

Challenges in diagnosing and managing adult patients with urea cycle disorders

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

Niemann-Pick disease type C symptomatology: an expert-based clinical description

International guidelines for the management and treatment of Morquio A syndrome

Consensus clinical management guidelines for Niemann-Pick disease type C

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

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom

Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome)

Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages

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

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria

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