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JIMD reports

Showing results (251-260 of 1,270) with videos related to

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JIMD Reports|March 6, 2023
Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infantAlfonso Galderisi, Elsa Kermorvant-Duchemin, Alejandra Daruich, et al.
JIMD Reports|December 12, 2025
Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver DiseaseSophie Manoy, Claire Murray, Matthew Lynch, et al.
JIMD Reports|December 11, 2025
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case ReportJeremy Clark, Joel Smith, Yoke Leong, et al.
JIMD Reports|December 5, 2025
Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical PracticePer Lundkvist, Karin Blom Malmberg, Linda Lindström, et al.
JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic <i>COQ8A</i> variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, et al.
JIMD Reports|July 21, 2020
Treatment of infantile neuroaxonal dystrophy with RT001: A di-deuterated ethyl ester of linoleic acid: Report of two casesDarius Adams, Mark Midei, Jahannaz Dastgir, et al.
JIMD Reports|July 21, 2020
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJan Václavík, Lucie Mádrová, Štěpán Kouřil, et al.
JIMD Reports|February 10, 2015
Asparagine Synthetase Deficiency: New Inborn Errors of MetabolismMajid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, et al.
JIMD Reports|February 26, 2015
Autophagy in Natural History and After ERT in Glycogenosis Type IICorrado Angelini, Anna C Nascimbeni, Marina Fanin
JIMD Reports|February 19, 2015
Innate and Adaptive Immune Response in Fabry DiseaseWladimir Mauhin, Olivier Lidove, Elisa Masat, et al.
Pageof 127

Showing results (251-260 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|March 6, 2023
Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infantAlfonso Galderisi, Elsa Kermorvant-Duchemin, Alejandra Daruich, et al.
JIMD Reports|December 12, 2025
Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver DiseaseSophie Manoy, Claire Murray, Matthew Lynch, et al.
JIMD Reports|December 11, 2025
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case ReportJeremy Clark, Joel Smith, Yoke Leong, et al.
JIMD Reports|December 5, 2025
Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical PracticePer Lundkvist, Karin Blom Malmberg, Linda Lindström, et al.
JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic <i>COQ8A</i> variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, et al.
JIMD Reports|July 21, 2020
Treatment of infantile neuroaxonal dystrophy with RT001: A di-deuterated ethyl ester of linoleic acid: Report of two casesDarius Adams, Mark Midei, Jahannaz Dastgir, et al.
JIMD Reports|July 21, 2020
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJan Václavík, Lucie Mádrová, Štěpán Kouřil, et al.
JIMD Reports|February 10, 2015
Asparagine Synthetase Deficiency: New Inborn Errors of MetabolismMajid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, et al.
JIMD Reports|February 26, 2015
Autophagy in Natural History and After ERT in Glycogenosis Type IICorrado Angelini, Anna C Nascimbeni, Marina Fanin
JIMD Reports|February 19, 2015
Innate and Adaptive Immune Response in Fabry DiseaseWladimir Mauhin, Olivier Lidove, Elisa Masat, et al.
Pageof 127