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JIMD Reports
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October 15, 2025
Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor
Elizabeth R Jalazo, Leigh Anne Weisenfeld, Anna Ligezka, et al.
JIMD Reports
|
October 1, 2025
A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, et al.
JIMD Reports
|
August 13, 2016
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency
Shane C Quinonez, Andrea H Seeley, Cindy Lam, et al.
JIMD Reports
|
August 1, 2025
Glycine <i>N</i>-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism
Mona Nourbakhsh, Mohammad Miryounesi, Ali Tale, et al.
JIMD Reports
|
July 18, 2025
Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy
T B Sloth, M C Ørngreen, J Ek, et al.
JIMD Reports
|
June 23, 2025
HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease
Hathaipat Vaseenon, Thipwimol Tim-Aroon, Vitchayaporn Emarach Saengow, et al.
JIMD Reports
|
February 12, 2025
Correction to "Expanding the Genetic and Clinical Spectrum of SLC25A42 Associated Disorders and Testing of Pantothenic Acid to Improve CoA Level In Vitro"
JIMD Reports
|
February 10, 2025
Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE
Ali K Saad, Tasneem Al-Hammadi, Shaikha Al-Ameri, et al.
JIMD Reports
|
February 27, 2025
Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review
Clara Sherlock, Kim Clarke, Norah Jordan
JIMD Reports
|
January 22, 2025
Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria
Hewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, et al.
Page
of 125
Search research articles
Search
Showing results (861-870 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
October 15, 2025
Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor
Elizabeth R Jalazo, Leigh Anne Weisenfeld, Anna Ligezka, et al.
JIMD Reports
|
October 1, 2025
A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, et al.
JIMD Reports
|
August 13, 2016
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency
Shane C Quinonez, Andrea H Seeley, Cindy Lam, et al.
JIMD Reports
|
August 1, 2025
Glycine <i>N</i>-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism
Mona Nourbakhsh, Mohammad Miryounesi, Ali Tale, et al.
JIMD Reports
|
July 18, 2025
Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy
T B Sloth, M C Ørngreen, J Ek, et al.
JIMD Reports
|
June 23, 2025
HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease
Hathaipat Vaseenon, Thipwimol Tim-Aroon, Vitchayaporn Emarach Saengow, et al.
JIMD Reports
|
February 12, 2025
Correction to "Expanding the Genetic and Clinical Spectrum of SLC25A42 Associated Disorders and Testing of Pantothenic Acid to Improve CoA Level In Vitro"
JIMD Reports
|
February 10, 2025
Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE
Ali K Saad, Tasneem Al-Hammadi, Shaikha Al-Ameri, et al.
JIMD Reports
|
February 27, 2025
Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review
Clara Sherlock, Kim Clarke, Norah Jordan
JIMD Reports
|
January 22, 2025
Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria
Hewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, et al.
Page
of 125