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JIMD reports

Showing results (291-300 of 1,270) with videos related to

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JIMD Reports|March 7, 2025
Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion BabySiew Li Ting, Yusnita Yakob, Huzaimah Abdullah Sani, et al.
JIMD Reports|March 26, 2025
Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated PhenylketonuriaYann Dos Santos, Patrick Emond, Ida Vanessa Doederlein Schwartz, et al.
JIMD Reports|March 26, 2025
Treatment of an Opposing Metabolic Situation: GLUT1-Deficiency Syndrome and Type 1 DiabetesAnna K Schoenlaub, Alexander Hoeller, Sabine Hofer, et al.
JIMD Reports|May 13, 2024
Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduriaJessica I Gold, Arianna K Stefanatos, Jamie L Fraser, et al.
JIMD Reports|May 13, 2024
Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotypeEmily Singh, Young-In Chi, Jessica Kopesky, et al.
JIMD Reports|November 26, 2025
Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe DiseaseAlicia Khazzeka, Rebecca L Koch, Jeong-A Lim, et al.
JIMD Reports|January 8, 2024
Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome SurveyBianca Link, Jaco Botha, Roberto Giugliani
JIMD Reports|February 11, 2015
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of AlkaptonuriaIlya Gertsman, Bruce A Barshop, Jan Panyard-Davis, et al.
JIMD Reports|November 22, 2015
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in HumansMara Doimo, Raffaele Lopreiato, Valentina Basso, et al.
JIMD Reports|March 17, 2021
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduriaEster Perales-Clemente, Angela L Hewitt, April L Studinski, et al.
Pageof 127

Showing results (291-300 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|March 7, 2025
Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion BabySiew Li Ting, Yusnita Yakob, Huzaimah Abdullah Sani, et al.
JIMD Reports|March 26, 2025
Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated PhenylketonuriaYann Dos Santos, Patrick Emond, Ida Vanessa Doederlein Schwartz, et al.
JIMD Reports|March 26, 2025
Treatment of an Opposing Metabolic Situation: GLUT1-Deficiency Syndrome and Type 1 DiabetesAnna K Schoenlaub, Alexander Hoeller, Sabine Hofer, et al.
JIMD Reports|May 13, 2024
Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduriaJessica I Gold, Arianna K Stefanatos, Jamie L Fraser, et al.
JIMD Reports|May 13, 2024
Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotypeEmily Singh, Young-In Chi, Jessica Kopesky, et al.
JIMD Reports|November 26, 2025
Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe DiseaseAlicia Khazzeka, Rebecca L Koch, Jeong-A Lim, et al.
JIMD Reports|January 8, 2024
Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome SurveyBianca Link, Jaco Botha, Roberto Giugliani
JIMD Reports|February 11, 2015
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of AlkaptonuriaIlya Gertsman, Bruce A Barshop, Jan Panyard-Davis, et al.
JIMD Reports|November 22, 2015
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in HumansMara Doimo, Raffaele Lopreiato, Valentina Basso, et al.
JIMD Reports|March 17, 2021
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduriaEster Perales-Clemente, Angela L Hewitt, April L Studinski, et al.
Pageof 127