| 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 | 550 | 2012 |
| 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 | 355 | 2015 |
| 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 | 266 | 2018 |
| 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 | 238 | 2008 |
| 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 | 219 | 2014 |
| 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 | 205 | 2013 |
| 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 | 200 | 2013 |
| 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 | 190 | 2012 |
| 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 | 171 | 2009 |
| 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 | 170 | 2016 |
| 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 | 165 | 2013 |
| 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 | 161 | 2015 |
| 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 | 154 | 2016 |
| 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 | 137 | 2013 |
| 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 | 116 | 2013 |
| Diagnosing mucopolysaccharidosis IVA TC Wood, K Harvey, M Beck, MG Burin, YH Chien, HJ Church, ... Journal of inherited metabolic disease 36, 293-307, 2013 | 114 | 2013 |
| 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 | 113 | 2019 |
| Mortality in patients with Morquio syndrome A C Lavery, C Hendriksz JIMD Reports, Volume 15, 59-66, 2015 | 107 | 2015 |
| 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 | 105 | 2016 |
| 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 | 103 | 2014 |
