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JIMD reports

Showing results (431-440 of 1,250) with videos related to

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JIMD Reports|October 22, 2013
Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a CatShoichi Wakitani, Shidow Torisu, Taiki Yoshino, et al.
JIMD Reports|July 8, 2017
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase DeficiencyAnnalisa Creanza, Mariella Cotugno, Cristina Mazzaccara, et al.
JIMD Reports|February 26, 2018
Serial Magnetic Resonance Imaging and <sup>1</sup>H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case ReportKazushi Ichikawa, Megumi Tsuji, Yu Tsuyusaki, et al.
JIMD Reports|November 18, 2020
MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literatureTawhida Y Abdel Ghaffar, Bobby G Ng, Solaf M Elsayed, et al.
JIMD Reports|February 20, 2020
Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing errorCaroline Tuchmann-Durand, Eloise Thevenet, Florence Moulin, et al.
JIMD Reports|February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsHossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.
JIMD Reports|July 14, 2021
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct <i>GLB1</i>-related phenotypeSylvia Stockler-Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, et al.
JIMD Reports|July 14, 2021
Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross-sectional analysisRoberta Reichert, Juliano A Pérez, Amauri Dalla-Corte, 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.
JIMD Reports|February 28, 2015
Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case ReportStefanie Heiber, Henryk Zulewski, Marianne Zaugg, et al.
Pageof 125

Showing results (431-440 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|October 22, 2013
Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a CatShoichi Wakitani, Shidow Torisu, Taiki Yoshino, et al.
JIMD Reports|July 8, 2017
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase DeficiencyAnnalisa Creanza, Mariella Cotugno, Cristina Mazzaccara, et al.
JIMD Reports|February 26, 2018
Serial Magnetic Resonance Imaging and <sup>1</sup>H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case ReportKazushi Ichikawa, Megumi Tsuji, Yu Tsuyusaki, et al.
JIMD Reports|November 18, 2020
MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literatureTawhida Y Abdel Ghaffar, Bobby G Ng, Solaf M Elsayed, et al.
JIMD Reports|February 20, 2020
Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing errorCaroline Tuchmann-Durand, Eloise Thevenet, Florence Moulin, et al.
JIMD Reports|February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsHossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.
JIMD Reports|July 14, 2021
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct <i>GLB1</i>-related phenotypeSylvia Stockler-Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, et al.
JIMD Reports|July 14, 2021
Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross-sectional analysisRoberta Reichert, Juliano A Pérez, Amauri Dalla-Corte, 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.
JIMD Reports|February 28, 2015
Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case ReportStefanie Heiber, Henryk Zulewski, Marianne Zaugg, et al.
Pageof 125