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Christian Hendriksz
Christian Hendriksz
Professor of Pediatrics and Metabolomics
Verified email at nestle.com
Title
Cited by
Cited by
Year
Recommendations for the diagnosis and management of Niemann–Pick disease type C: an update
MC Patterson, CJ Hendriksz, M Walterfang, F Sedel, MT Vanier, F Wijburg, ...
Molecular genetics and metabolism 106 (3), 330-344, 2012
5422012
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
M Biegstraaten, R Arngrímsson, F Barbey, L Boks, F Cecchi, PB Deegan, ...
Orphanet journal of rare diseases 10, 1-10, 2015
3502015
Consensus clinical management guidelines for Niemann-Pick disease type C
T Geberhiwot, A Moro, A Dardis, U Ramaswami, S Sirrs, MP Marfa, ...
Orphanet journal of rare diseases 13, 1-19, 2018
2622018
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
MA Kurian, NV Morgan, L MacPherson, K Foster, D Peake, R Gupta, ...
Neurology 70 (18), 1623-1629, 2008
2372008
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
CJ Hendriksz, B Burton, TR Fleming, P Harmatz, D Hughes, SA Jones, ...
Journal of inherited metabolic disease 37, 979-990, 2014
2192014
Niemann-Pick disease type C symptomatology: an expert-based clinical description
E Mengel, HH Klünemann, CM Lourenço, CJ Hendriksz, F Sedel, ...
Orphanet journal of rare diseases 8, 1-11, 2013
2022013
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA
CJ Hendriksz, P Harmatz, M Beck, S Jones, T Wood, R Lachman, ...
Molecular genetics and metabolism 110 (1-2), 54-64, 2013
1982013
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
FA Wijburg, F Sedel, M Pineda, CJ Hendriksz, M Fahey, M Walterfang, ...
Neurology 78 (20), 1560-1567, 2012
1882012
Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)
SA Jones, Z Almássy, M Beck, K Burt, JT Clarke, R Giugliani, C Hendriksz, ...
Journal of inherited metabolic disease 32, 534-543, 2009
1712009
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II
J Muenzer, CJ Hendriksz, Z Fan, S Vijayaraghavan, V Perry, S Santra, ...
Genetics in Medicine 18 (1), 73-81, 2016
1672016
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects
P Harmatz, KE Mengel, R Giugliani, V Valayannopoulos, SP Lin, R Parini, ...
Molecular Genetics and Metabolism 109 (1), 54-61, 2013
1632013
International guidelines for the management and treatment of Morquio A syndrome
CJ Hendriksz, KI Berger, R Giugliani, P Harmatz, C Kampmann, ...
American Journal of Medical Genetics Part A 167 (1), 11-25, 2015
1582015
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
MT Vanier, P Gissen, P Bauer, MJ Coll, A Burlina, CJ Hendriksz, P Latour, ...
Molecular genetics and metabolism 118 (4), 244-254, 2016
1512016
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management
GA Solanki, KW Martin, MC Theroux, C Lampe, KK White, R Shediac, ...
Journal of inherited metabolic disease 36, 339-355, 2013
1372013
Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA
CJ Hendriksz, M Al-Jawad, KI Berger, SM Hawley, R Lawrence, ...
Journal of inherited metabolic disease 36, 309-322, 2013
1162013
Diagnosing mucopolysaccharidosis IVA
TC Wood, K Harvey, M Beck, MG Burin, YH Chien, HJ Church, ...
Journal of inherited metabolic disease 36, 293-307, 2013
1112013
Recommendations for the management of MPS IVA: systematic evidence-and consensus-based guidance
MU Akyol, TD Alden, H Amartino, J Ashworth, K Belani, KI Berger, ...
Orphanet journal of rare diseases 14, 1-25, 2019
1102019
Mortality in patients with Morquio syndrome A
C Lavery, C Hendriksz
JIMD Reports, Volume 15, 59-66, 2015
1052015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
SA Jones, V Valayannopoulos, E Schneider, S Eckert, M Banikazemi, ...
Genetics in Medicine 18 (5), 452-458, 2016
1042016
Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey
CJ Hendriksz, C Lavery, M Coker, SK Ucar, M Jain, L Bell, C Lampe
Orphanet journal of rare diseases 9, 1-8, 2014
1012014
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