Adrian Quartel
BioMarin Pharmaceutical Inc., Novato, CA, USABioMarin Pharmaceutical Inc.USANovato, CA, USABioMarin Pharmaceutical Inc., Novato, CA, USA
Declaration of Conflicting Interests
The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: A. Q. is an employee in BioMarin Pharmaceutical Inc.
P.R.H. received grants, personal fees, and non-financial support from BioMarin during the conduct of the study. Also (all outside the submitted work): grants, personal fees, and non-financial support from Shire; grants and personal fees from Alexion and ArmaGen; personal fees from Chiesi, Genzyme, PTC Therapeutics, and REGENXBIO; consulting for Inventiva. C.L. received grants/research support from Actelion, Alexion, BioMarin, Genzyme, and Shire; participated in a company-sponsored speaker’s bureau for Actelion, Alexion, Bio-Marin, Genzyme, and Shire. N.G. received a grant from BioMarin; received clinical trial and registries grants from BioMarin, Chiesi, Genzyme, Sanofi, Shire HGT, and Sobi. D.K. received grants from BioMarin during the conduct of the study and grants, personal fees, and non-financial support from Bio-Marin outside the submitted work. E.L.-T. received consulting fees from BioMarin and travel and meeting support to attend scientific meetings from BioMarin, Genzyme, and Shire. S.A.J. received personal fees from BioMarin outside the submitted work. R.G. received speaker honoraria/consulting fees from Actelion, Amicus, BioMarin, Genzyme, PTC Therapeutics, and Shire; research grants from Amicus, ArmaGen, BioMarin, Genzyme, and Shire; and travel funding to attend scientific meetings from Actelion, BioMarin, Genzyme, and Shire.
Paul R. Harmatz
UCSF Benioff Children’s Hospital Oakland, Oakland, CA, USAUCSFUSAOakland, CA, USAUCSF Benioff Children’s Hospital Oakland, Oakland, CA, USA
Declaration of Conflicting Interests
The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: A. Q. is an employee in BioMarin Pharmaceutical Inc.
P.R.H. received grants, personal fees, and non-financial support from BioMarin during the conduct of the study. Also (all outside the submitted work): grants, personal fees, and non-financial support from Shire; grants and personal fees from Alexion and ArmaGen; personal fees from Chiesi, Genzyme, PTC Therapeutics, and REGENXBIO; consulting for Inventiva. C.L. received grants/research support from Actelion, Alexion, BioMarin, Genzyme, and Shire; participated in a company-sponsored speaker’s bureau for Actelion, Alexion, Bio-Marin, Genzyme, and Shire. N.G. received a grant from BioMarin; received clinical trial and registries grants from BioMarin, Chiesi, Genzyme, Sanofi, Shire HGT, and Sobi. D.K. received grants from BioMarin during the conduct of the study and grants, personal fees, and non-financial support from Bio-Marin outside the submitted work. E.L.-T. received consulting fees from BioMarin and travel and meeting support to attend scientific meetings from BioMarin, Genzyme, and Shire. S.A.J. received personal fees from BioMarin outside the submitted work. R.G. received speaker honoraria/consulting fees from Actelion, Amicus, BioMarin, Genzyme, PTC Therapeutics, and Shire; research grants from Amicus, ArmaGen, BioMarin, Genzyme, and Shire; and travel funding to attend scientific meetings from Actelion, BioMarin, Genzyme, and Shire.
Christina Lampe
Centre for Rare Diseases, Clinic for Children and Adolescents, Helios Dr Horst Schmidt Kliniken, Wiesbaden, GermanyHelios Dr Horst Schmidt KlinikenGermanyWiesbaden, GermanyCentre for Rare Diseases, Clinic for Children and Adolescents, Helios Dr Horst Schmidt Kliniken, Wiesbaden, Germany
Declaration of Conflicting Interests
The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: A. Q. is an employee in BioMarin Pharmaceutical Inc.
P.R.H. received grants, personal fees, and non-financial support from BioMarin during the conduct of the study. Also (all outside the submitted work): grants, personal fees, and non-financial support from Shire; grants and personal fees from Alexion and ArmaGen; personal fees from Chiesi, Genzyme, PTC Therapeutics, and REGENXBIO; consulting for Inventiva. C.L. received grants/research support from Actelion, Alexion, BioMarin, Genzyme, and Shire; participated in a company-sponsored speaker’s bureau for Actelion, Alexion, Bio-Marin, Genzyme, and Shire. N.G. received a grant from BioMarin; received clinical trial and registries grants from BioMarin, Chiesi, Genzyme, Sanofi, Shire HGT, and Sobi. D.K. received grants from BioMarin during the conduct of the study and grants, personal fees, and non-financial support from Bio-Marin outside the submitted work. E.L.-T. received consulting fees from BioMarin and travel and meeting support to attend scientific meetings from BioMarin, Genzyme, and Shire. S.A.J. received personal fees from BioMarin outside the submitted work. R.G. received speaker honoraria/consulting fees from Actelion, Amicus, BioMarin, Genzyme, PTC Therapeutics, and Shire; research grants from Amicus, ArmaGen, BioMarin, Genzyme, and Shire; and travel funding to attend scientific meetings from Actelion, BioMarin, Genzyme, and Shire.
Nathalie Guffon
Hôpital Femme Mere Enfant, CERLYMM, Hospices Civils de Lyon, Lyon, FranceHôpital Femme Mere EnfantFranceLyon, FranceHôpital Femme Mere Enfant, CERLYMM, Hospices Civils de Lyon, Lyon, France
Declaration of Conflicting Interests
The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: A. Q. is an employee in BioMarin Pharmaceutical Inc.
P.R.H. received grants, personal fees, and non-financial support from BioMarin during the conduct of the study. Also (all outside the submitted work): grants, personal fees, and non-financial support from Shire; grants and personal fees from Alexion and ArmaGen; personal fees from Chiesi, Genzyme, PTC Therapeutics, and REGENXBIO; consulting for Inventiva. C.L. received grants/research support from Actelion, Alexion, BioMarin, Genzyme, and Shire; participated in a company-sponsored speaker’s bureau for Actelion, Alexion, Bio-Marin, Genzyme, and Shire. N.G. received a grant from BioMarin; received clinical trial and registries grants from BioMarin, Chiesi, Genzyme, Sanofi, Shire HGT, and Sobi. D.K. received grants from BioMarin during the conduct of the study and grants, personal fees, and non-financial support from Bio-Marin outside the submitted work. E.L.-T. received consulting fees from BioMarin and travel and meeting support to attend scientific meetings from BioMarin, Genzyme, and Shire. S.A.J. received personal fees from BioMarin outside the submitted work. R.G. received speaker honoraria/consulting fees from Actelion, Amicus, BioMarin, Genzyme, PTC Therapeutics, and Shire; research grants from Amicus, ArmaGen, BioMarin, Genzyme, and Shire; and travel funding to attend scientific meetings from Actelion, BioMarin, Genzyme, and Shire.
David Ketteridge
Women’s and Children’s Hospital, North Adelaide, AustraliaWomen’s and Children’s HospitalAustraliaNorth Adelaide, AustraliaWomen’s and Children’s Hospital, North Adelaide, Australia
Declaration of Conflicting Interests
The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: A. Q. is an employee in BioMarin Pharmaceutical Inc.
P.R.H. received grants, personal fees, and non-financial support from BioMarin during the conduct of the study. Also (all outside the submitted work): grants, personal fees, and non-financial support from Shire; grants and personal fees from Alexion and ArmaGen; personal fees from Chiesi, Genzyme, PTC Therapeutics, and REGENXBIO; consulting for Inventiva. C.L. received grants/research support from Actelion, Alexion, BioMarin, Genzyme, and Shire; participated in a company-sponsored speaker’s bureau for Actelion, Alexion, Bio-Marin, Genzyme, and Shire. N.G. received a grant from BioMarin; received clinical trial and registries grants from BioMarin, Chiesi, Genzyme, Sanofi, Shire HGT, and Sobi. D.K. received grants from BioMarin during the conduct of the study and grants, personal fees, and non-financial support from Bio-Marin outside the submitted work. E.L.-T. received consulting fees from BioMarin and travel and meeting support to attend scientific meetings from BioMarin, Genzyme, and Shire. S.A.J. received personal fees from BioMarin outside the submitted work. R.G. received speaker honoraria/consulting fees from Actelion, Amicus, BioMarin, Genzyme, PTC Therapeutics, and Shire; research grants from Amicus, ArmaGen, BioMarin, Genzyme, and Shire; and travel funding to attend scientific meetings from Actelion, BioMarin, Genzyme, and Shire.
Elisa Leão-Teles
Hospital Pediátrico Integrado, Centro Hospitalar S. João, Porto, PortugalCentro Hospitalar S. JoãoPortugalPorto, PortugalHospital Pediátrico Integrado, Centro Hospitalar S. João, Porto, Portugal
Declaration of Conflicting Interests
The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: A. Q. is an employee in BioMarin Pharmaceutical Inc.
P.R.H. received grants, personal fees, and non-financial support from BioMarin during the conduct of the study. Also (all outside the submitted work): grants, personal fees, and non-financial support from Shire; grants and personal fees from Alexion and ArmaGen; personal fees from Chiesi, Genzyme, PTC Therapeutics, and REGENXBIO; consulting for Inventiva. C.L. received grants/research support from Actelion, Alexion, BioMarin, Genzyme, and Shire; participated in a company-sponsored speaker’s bureau for Actelion, Alexion, Bio-Marin, Genzyme, and Shire. N.G. received a grant from BioMarin; received clinical trial and registries grants from BioMarin, Chiesi, Genzyme, Sanofi, Shire HGT, and Sobi. D.K. received grants from BioMarin during the conduct of the study and grants, personal fees, and non-financial support from Bio-Marin outside the submitted work. E.L.-T. received consulting fees from BioMarin and travel and meeting support to attend scientific meetings from BioMarin, Genzyme, and Shire. S.A.J. received personal fees from BioMarin outside the submitted work. R.G. received speaker honoraria/consulting fees from Actelion, Amicus, BioMarin, Genzyme, PTC Therapeutics, and Shire; research grants from Amicus, ArmaGen, BioMarin, Genzyme, and Shire; and travel funding to attend scientific meetings from Actelion, BioMarin, Genzyme, and Shire.
Simon A. Jones
Willink Unit, Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester, United KingdomManchester Centre for Genomic MedicineUnited KingdomManchester, United KingdomWillink Unit, Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester, United Kingdom
Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United KingdomUniversity of ManchesterUnited KingdomManchester, United KingdomManchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom
Central Manchester Hospital National Health Service Foundation Trust, Manchester, United KingdomCentral Manchester Hospital National Health Service Foundation TrustUnited KingdomManchester, United KingdomCentral Manchester Hospital National Health Service Foundation Trust, Manchester, United Kingdom
Declaration of Conflicting Interests
The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: A. Q. is an employee in BioMarin Pharmaceutical Inc.
P.R.H. received grants, personal fees, and non-financial support from BioMarin during the conduct of the study. Also (all outside the submitted work): grants, personal fees, and non-financial support from Shire; grants and personal fees from Alexion and ArmaGen; personal fees from Chiesi, Genzyme, PTC Therapeutics, and REGENXBIO; consulting for Inventiva. C.L. received grants/research support from Actelion, Alexion, BioMarin, Genzyme, and Shire; participated in a company-sponsored speaker’s bureau for Actelion, Alexion, Bio-Marin, Genzyme, and Shire. N.G. received a grant from BioMarin; received clinical trial and registries grants from BioMarin, Chiesi, Genzyme, Sanofi, Shire HGT, and Sobi. D.K. received grants from BioMarin during the conduct of the study and grants, personal fees, and non-financial support from Bio-Marin outside the submitted work. E.L.-T. received consulting fees from BioMarin and travel and meeting support to attend scientific meetings from BioMarin, Genzyme, and Shire. S.A.J. received personal fees from BioMarin outside the submitted work. R.G. received speaker honoraria/consulting fees from Actelion, Amicus, BioMarin, Genzyme, PTC Therapeutics, and Shire; research grants from Amicus, ArmaGen, BioMarin, Genzyme, and Shire; and travel funding to attend scientific meetings from Actelion, BioMarin, Genzyme, and Shire.
Roberto Giugliani
Medical Genetics Service, Hospital de Clinicas de Porto Alegre, BrazilHospital de Clinicas de Porto AlegreBrazilBrazilMedical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil
Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilUniversidade Federal do Rio Grande do SulBrazilPorto Alegre, BrazilDepartment of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
Authors’ Note
Data are available from the corresponding author on request. Data from this report were presented at the 13th Annual WORLDSymposium (February 13-17, 2017, San Diego, California) and published in abstract form as Giugliani R, et al. Molec Genet Metab. 2017;120(1-2): S56. Abstract 113.
Declaration of Conflicting Interests
The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: A. Q. is an employee in BioMarin Pharmaceutical Inc.
P.R.H. received grants, personal fees, and non-financial support from BioMarin during the conduct of the study. Also (all outside the submitted work): grants, personal fees, and non-financial support from Shire; grants and personal fees from Alexion and ArmaGen; personal fees from Chiesi, Genzyme, PTC Therapeutics, and REGENXBIO; consulting for Inventiva. C.L. received grants/research support from Actelion, Alexion, BioMarin, Genzyme, and Shire; participated in a company-sponsored speaker’s bureau for Actelion, Alexion, Bio-Marin, Genzyme, and Shire. N.G. received a grant from BioMarin; received clinical trial and registries grants from BioMarin, Chiesi, Genzyme, Sanofi, Shire HGT, and Sobi. D.K. received grants from BioMarin during the conduct of the study and grants, personal fees, and non-financial support from Bio-Marin outside the submitted work. E.L.-T. received consulting fees from BioMarin and travel and meeting support to attend scientific meetings from BioMarin, Genzyme, and Shire. S.A.J. received personal fees from BioMarin outside the submitted work. R.G. received speaker honoraria/consulting fees from Actelion, Amicus, BioMarin, Genzyme, PTC Therapeutics, and Shire; research grants from Amicus, ArmaGen, BioMarin, Genzyme, and Shire; and travel funding to attend scientific meetings from Actelion, BioMarin, Genzyme, and Shire.