Christian J Hendriksz

Christian J Hendriksz

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Christian J Hendriksz

Christian J Hendriksz

Publications by authors named "Christian J Hendriksz"

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49Publications

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

Mol Genet Metab Rep 2019 Sep 8;20:100480. Epub 2019 Jun 8.

Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free London NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557729PMC
September 2019

Challenges in diagnosing and managing adult patients with urea cycle disorders.

J Inherit Metab Dis 2019 Apr 1. Epub 2019 Apr 1.

National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1002/jimd.12096DOI Listing
April 2019

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

Mol Genet Metab 2018 06 18;124(2):152-160. Epub 2018 Apr 18.

Centre for Inherited Metabolic Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgme.2018.04.003DOI Listing
June 2018

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

Mol Genet Metab Rep 2017 Dec 21;13:111-114. Epub 2017 Oct 21.

The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Stott Lane, M6 8HD Salford, United Kingdom.

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http://dx.doi.org/10.1016/j.ymgmr.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5651539PMC
December 2017

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

Arch Oral Biol 2017 Aug 20;80:193-196. Epub 2017 Apr 20.

Barts and the London School of Medicine and Dentistry, Institute of Dentistry, Queen Mary University of London, London E1 4NS, UK.

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http://dx.doi.org/10.1016/j.archoralbio.2017.04.019DOI Listing
August 2017

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

Mol Genet Metab 2017 03 7;120(3):180-189. Epub 2016 Dec 7.

Actelion Pharmaceuticals Ltd, Allschwil, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.003DOI Listing
March 2017

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

Expert Rev Clin Pharmacol 2016 Dec 23;9(12):1521-1532. Epub 2016 Nov 23.

a Paediatrics and Child Health , University of Pretoria , Steve Biko Academic Unit, Pretoria , South Africa.

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http://dx.doi.org/10.1080/17512433.2017.1260000DOI Listing
December 2016

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

Mol Genet Metab 2016 08 7;118(4):244-54. Epub 2016 Jun 7.

Actelion Pharmaceuticals Ltd., Gewerbestrasse 16, 4123 Allschwil, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.004DOI Listing
August 2016

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.

JIMD Rep 2017 13;33:49-53. Epub 2016 Aug 13.

Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Stott Lane, M6 8HD, Salford, UK.

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http://dx.doi.org/10.1007/8904_2016_569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413453PMC
August 2016

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

Orphanet J Rare Dis 2016 08 26;11(1):119. Epub 2016 Aug 26.

Keck School of Medicine, Departments of Anesthesiology, Pediatrics, and Psychiatry & Behavioral Sciences, Children's Hospital Los Angeles, Anesthesiology Critical Care Medicine, Pediatric Pain Management Clinic, University of Southern California, California, USA.

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http://dx.doi.org/10.1186/s13023-016-0503-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000418PMC
August 2016

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

Dev Period Med 2015 Oct-Dec;19(4):450-3

The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Stott Lane, Salford M6 8HD, e-mail: Phone: 0044 161 2064365.

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May 2016

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

Dev Period Med 2015 Oct-Dec;19(4):523-7

The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Stott Lane, Salford M6 8HD, e-mail: Phone: 0044 161 2064365.

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May 2016

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

Mol Genet Metab 2016 Apr 4;117(4):413-8. Epub 2016 Feb 4.

Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Stott Line, M6 8HD, Salford, UK.

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http://dx.doi.org/10.1016/j.ymgme.2016.01.013DOI Listing
April 2016

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

Micron 2016 Apr 12;83:48-53. Epub 2016 Jan 12.

Queen Mary University of London, Barts and the London School of Medicine and Dentistry, Institute of Dentistry, London E1 4NS, UK.

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http://dx.doi.org/10.1016/j.micron.2016.01.001DOI Listing
April 2016

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

Mol Genet Metab 2015 Jan 30;114(1):11-8. Epub 2014 Oct 30.

Department of Anesthesiology & Critical Care, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803-3607, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.10.010DOI Listing
January 2015

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

Orphanet J Rare Dis 2014 Mar 7;9:32. Epub 2014 Mar 7.

Manchester Academic Health Science Centre, The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Salford, UK.

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http://dx.doi.org/10.1186/1750-1172-9-32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016149PMC
March 2014

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

Orphanet J Rare Dis 2013 Oct 17;8:166. Epub 2013 Oct 17.

Department of Lysosomal Storage Disorder, Villa Metabolica, Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany.

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http://dx.doi.org/10.1186/1750-1172-8-166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853996PMC
October 2013

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

J Inherit Metab Dis 2013 Mar 13;36(2):329-37. Epub 2013 Feb 13.

Department of Paediatric Neurosurgery, Birmingham Children's Hospital NHS Foundation Trust, Steelhouse lane, Birmingham, UK.

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http://link.springer.com/10.1007/s10545-013-9585-3
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http://dx.doi.org/10.1007/s10545-013-9585-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590415PMC
March 2013

Mucopolysaccharidoses (MPS).

J Inherit Metab Dis 2013 Mar 15;36(2):177-8. Epub 2013 Feb 15.

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http://dx.doi.org/10.1007/s10545-013-9596-0DOI Listing
March 2013

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

JIMD Rep 2013 13;9:59-65. Epub 2012 Oct 13.

Hand and Upper Limb Unit, Dept. of Plastic Surgery, Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK.

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http://dx.doi.org/10.1007/8904_2012_179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565635PMC
February 2013

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

JIMD Rep 2012 6;2:51-8. Epub 2011 Sep 6.

Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK,

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http://dx.doi.org/10.1007/8904_2011_46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509840PMC
February 2013

Disruption of enamel crystal formation quantified by synchrotron microdiffraction.

J Dent 2012 Dec 7;40(12):1074-80. Epub 2012 Sep 7.

Queen Mary University London, Barts and the London School of Medicine and Dentistry, Institute of Dentistry, London E1 4NS, UK.

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http://dx.doi.org/10.1016/j.jdent.2012.08.020DOI Listing
December 2012

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Mol Genet Metab 2012 Jul 8;106(3):330-44. Epub 2012 May 8.

Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.03.012DOI Listing
July 2012

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

J Inherit Metab Dis 2010 Dec 1;33 Suppl 3:S395-9. Epub 2010 Oct 1.

Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.

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http://link.springer.com/content/pdf/10.1007/s10545-010-9197
Web Search
http://link.springer.com/10.1007/s10545-010-9197-0
Publisher Site
http://dx.doi.org/10.1007/s10545-010-9197-0DOI Listing
December 2010