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List of works by Chris Hendriksz

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

scientific article published on 30 May 2006

A Comparison of Gait Patterns between Late-Onset Pompe Disease and Age-Matched Healthy Individuals: Does Late-Onset Pompe Disease have a Typical Gait Pattern?

A case of acute papillary muscle rupture in a child with campylobacter enteritis and citrullinaemia

scientific article published on 20 October 2007

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

scientific article published on 2 April 2015

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

scientific article

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

scientific article

Bone marrow transplantation in glycogen storage disease type 1b.

scientific article

Breast feeding in IMD

scientific article published on 01 April 2006

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

scientific article

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

scientific article published on 3 June 2016

Challenges in diagnosing and managing adult patients with urea cycle disorders

scientific article published on 08 May 2019

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

scientific article

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

scientific article published on 6 April 2018

Correspondence

scientific article published on 01 January 2007

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

scientific article published on July 2010

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

scientific article published on 18 April 2012

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

scientific article published on 3 May 2017

Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.

scientific article

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

scientific article

Dietary practices in glutaric aciduria type 1 over 16 years.

scientific article published on 30 July 2012

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

scientific article published on 8 June 2019

Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria?

scientific article published in August 2008

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

scientific article published on 18 November 2016

Enzyme replacement therapy for late‐onset Pompe disease

Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome)

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

scientific article published on 18 April 2018

Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.

scientific article published on 21 February 2017

Expert recommendations for the laboratory diagnosis of MPS VI.

scientific article published on 10 February 2012

Feeding infants with undiluted goat's milk can mimic tyrosinaemia type 1.

scientific article published in April 2004

Gastrointestinal disturbances and their management in miglustat‐treated patients ⬇️

scientific article published on July 21, 2011

Glutaric aciduria type 1 presenting with epilepsy.

scientific article published in March 2009

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

scientific article

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.

scientific article published on 7 December 2017

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

scientific article

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

scientific article

Home delivery of dietary products in inherited metabolic disorders reduces prescription and dispensing errors.

scientific article published in October 2006

Homozygous hypercholesterolaemia and ezetimibe: a case report.

scientific article published in February 2004

How to use acylcarnitine profiles to help diagnose inborn errors of metabolism.

scientific article published on 24 August 2010

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.

scientific article published on 5 December 2017

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

scientific article published on 23 August 2016

Improved diagnostic procedures in attenuated mucopolysaccharidosis ⬇️

scientific article published on February 1, 2011

Inborn errors of metabolism for the diagnostic radiologist.

scientific article published on 13 December 2008

Intellectual and neurological functioning in Morquio syndrome (MPS IVa).

scientific article

International guidelines for the management and treatment of Morquio A syndrome.

scientific article published on 24 October 2014

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

scientific article

Juvenile Sandhoff disease--nine new cases and a review of the literature

scientific article

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

Lipid profile in adult patients with Fabry disease - Ten-year follow up

scientific article

Long-term compliance with a novel vitamin and mineral supplement in older people with PKU.

scientific article

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

scientific article published on 16 June 2016

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

scientific article published on November 2014

Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

scientific article published on 03 June 2010

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

Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III

scientific article published on 01 May 2018

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

scientific article published on 11 August 2020

Methylmalonic acidaemia in a 7-month-old following maternal highly active antiretroviral therapy during pregnancy

scientific article published on 01 August 2007

Mortality in patients with Sanfilippo syndrome.

scientific article published on 23 October 2017

Mortality in patients with morquio syndrome a.

scientific article

Mucopolysaccharidoses (MPS).

scientific article published on 15 February 2013

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.

scientific article published on 6 February 2013

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

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

scientific article published on 21 June 2013

Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment

scientific article published on April 2017

Objective results of median nerve decompression and tenosynovectomy for carpal tunnel syndrome in patients with mucopolysaccharidoses Types I and II

scientific article published on 19 February 2014

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

scientific article published on 4 February 2016

Oculomotor abnormalities in children with Niemann-Pick type C.

scientific article

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

scientific article published on 17 February 2019

Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation

scientific article published on 01 January 2004

Prospective treatment in carnitine-acylcarnitine translocase deficiency.

scientific article

Protein substitute dosage in PKU: how much do young patients need?

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

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

scientific article published on 27 August 2015

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

scientific article

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

scientific article published on 13 June 2019

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

scientific article published on March 2014

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA ⬇️

scientific article published on April 10, 2013

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders.

scientific article published on 7 March 2018

Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment

scientific article

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

scientific article published on 06 February 2013

Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients ⬇️

scientific article published on October 13, 2012

Successful pregnancy in a treated patient with biotinidase deficiency.

scientific article

Synchrotron X-ray diffraction and scanning electron microscopy to understand enamel affected by metabolic disorder mucopolysaccharidosis

scientific article published on 12 January 2016

Synchrotron X-ray diffraction to understand crystallographic texture of enamel affected by Hunter syndrome

scientific article published on 20 April 2017

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

scientific article published on 9 February 2013

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

The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

scientific article

The management of children with Hunter syndrome - a case study.

scientific article published in March 2009

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

scientific article

The principles of the transition process from paediatric to adult services in inborn errors of metabolism--own experience

The use of port-a-caths in adult patients with Lysosomal Storage Disorders receiving Enzyme Replacement Therapy-one centre experience

scientific article

Transition of patients with mucopolysaccharidosis from paediatric to adult care

scientific article published on 21 October 2019

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary management

scientific article published in January 2015

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