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List of works by Chris Hendriksz

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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

scientific article published on May 9, 2014
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA

scientific article published on April 10, 2013
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

scientific article published on 18 April 2012
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II.

scientific article published on 2 April 2015
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

scientific article
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

scientific article published on 9 February 2013
International guidelines for the management and treatment of Morquio A syndrome.

scientific article published on 24 October 2014
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

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

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

scientific article published on March 7, 2014
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

scientific article published on 06 February 2013
Mortality in patients with morquio syndrome a.

scientific article
Gastrointestinal disturbances and their management in miglustat‐treated patients

scientific article published on July 21, 2011
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

scientific article published on March 2014
Protein substitute dosage in PKU: how much do young patients need?

scientific article
Consensus clinical management guidelines for Niemann-Pick disease type C.

scientific article published on 6 April 2018
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

scientific article
'Ready to drink' protein substitute is easier is for people with phenylketonuria.

scientific article published on 30 May 2006
Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria?

scientific article published in August 2008
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

scientific article published on 16 June 2016
Intellectual and neurological functioning in Morquio syndrome (MPS IVa).

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

scientific article published on November 2014
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

scientific article published on 21 June 2013
Expert recommendations for the laboratory diagnosis of MPS VI.

scientific article published on 10 February 2012
Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

scientific article published on October 13, 2012
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

scientific article
Breast feeding in IMD

scientific article published on 01 April 2006
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

scientific article published on 27 August 2015
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.

scientific article
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

scientific article published on 11 June 2009
Juvenile Sandhoff disease--nine new cases and a review of the literature

scientific article
Design and validation of a metabolic disorder resequencing microarray (BRUM1).

scientific article published on July 2010
Bone marrow transplantation in glycogen storage disease type 1b.

scientific article
Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

scientific article published on 4 February 2016
Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

scientific article
MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome).

scientific article published on 13 February 2013
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.

scientific article published on 23 August 2016
Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

scientific article
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.

scientific article
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.

scientific article
The oral health needs of children, adolescents and young adults affected by a mucopolysaccharide disorder

scientific article
Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome).

scientific article published on October 2010
Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP).

scientific article published on 3 June 2016
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

scientific article published on 31 March 2017
Long-term compliance with a novel vitamin and mineral supplement in older people with PKU.

scientific article
Glutaric aciduria type 1 presenting with epilepsy.

scientific article published in March 2009
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

scientific article published on 3 May 2017
Home delivery of dietary products in inherited metabolic disorders reduces prescription and dispensing errors.

scientific article published in October 2006
Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment

scientific article published on April 2017
Prospective treatment in carnitine-acylcarnitine translocase deficiency.

scientific article

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