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John J Mitchell

Showing results (51-60 of 73) with videos related to

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Journal of Inherited Metabolic Disease|March 10, 2025
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa)David A Weinstein, Terry G Derks, David F Rodriguez-Buritica, et al.
Orphanet Journal of Rare Diseases|February 5, 2016
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort studyMaria D Karaceper, Pranesh Chakraborty, Doug Coyle, et al.
Human Mutation|June 21, 2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaDustin Baldridge, Ulrike Schwarze, Roy Morello, et al.
Orphanet Journal of Rare Diseases|October 24, 2024
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurementAlison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 5, 2016
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapyShaalee Dworski, Ping Lu, Aneal Khan, et al.
The Patient|July 20, 2021
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional SurveyAndrea J Chow, Michael Pugliese, Laure A Tessier, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.
Orphanet Journal of Rare Diseases|May 31, 2019
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.
Orphanet Journal of Rare Diseases|December 9, 2016
Experiences of caregivers of children with inherited metabolic diseases: a qualitative studyShabnaz Siddiq, Brenda J Wilson, Ian D Graham, et al.
JIMD Reports|February 27, 2015
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in CanadaMonica F Lamoureux, Kylie Tingley, Jonathan B Kronick, et al.
Pageof 8

Showing results (51-60 of 73) with videos related to

Sort By:
Pageof 8
Journal of Inherited Metabolic Disease|March 10, 2025
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa)David A Weinstein, Terry G Derks, David F Rodriguez-Buritica, et al.
Orphanet Journal of Rare Diseases|February 5, 2016
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort studyMaria D Karaceper, Pranesh Chakraborty, Doug Coyle, et al.
Human Mutation|June 21, 2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaDustin Baldridge, Ulrike Schwarze, Roy Morello, et al.
Orphanet Journal of Rare Diseases|October 24, 2024
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurementAlison H Howie, Kylie Tingley, Michal Inbar-Feigenberg, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 5, 2016
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapyShaalee Dworski, Ping Lu, Aneal Khan, et al.
The Patient|July 20, 2021
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional SurveyAndrea J Chow, Michael Pugliese, Laure A Tessier, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.
Orphanet Journal of Rare Diseases|May 31, 2019
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.
Orphanet Journal of Rare Diseases|December 9, 2016
Experiences of caregivers of children with inherited metabolic diseases: a qualitative studyShabnaz Siddiq, Brenda J Wilson, Ian D Graham, et al.
JIMD Reports|February 27, 2015
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in CanadaMonica F Lamoureux, Kylie Tingley, Jonathan B Kronick, et al.
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