Glycine N-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the GLYAT: A Novel Inborn Error of Metabolism.
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| Title: | Glycine N-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the GLYAT: A Novel Inborn Error of Metabolism. |
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| Authors: | Nourbakhsh M; Aliasghar Clinical Research Development Center, Department of Pediatrics, School of Medicine Iran University of Medical Sciences Tehran Iran., Miryounesi M; Department of Medical Genetics, School of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran., Tale A; Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute Tehran University of Medical Sciences Tehran Iran., Karimzadeh P; Department of Pediatric Neurology, Pediatric Neurology Research Center, Research Institute for Children's Health Shahid Beheshti University of Medical Sciences Tehran Iran., Sadeghi H; Genomic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran., Ghasemi MR; Department of Medical Genetics, School of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran., Alipour N; Genomic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran., Pourbakhtyaran E; Department of Pediatric Neurology, Pediatric Neurology Research Center, Research Institute for Children's Health Shahid Beheshti University of Medical Sciences Tehran Iran., Hooman N; Aliasghar Clinical Research Development Center, Department of Pediatrics, School of Medicine Iran University of Medical Sciences Tehran Iran., Razzaghy-Azar M; Aliasghar Clinical Research Development Center, Department of Pediatrics, School of Medicine Iran University of Medical Sciences Tehran Iran.; Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute Tehran University of Medical Sciences Tehran Iran., Nourbakhsh M; Finetech in Medicine Research Center Iran University of Medical Sciences Tehran Iran.; Department of Clinical Biochemistry, School of Medicine Iran University of Medical Sciences Tehran Iran., Klaas L; Research Group Inborn Errors of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA) Bonn-Rhein-Sieg University of Applied Sciences Rheinbach Germany., Schulke D; Research Group Inborn Errors of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA) Bonn-Rhein-Sieg University of Applied Sciences Rheinbach Germany., Sass JO; Research Group Inborn Errors of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA) Bonn-Rhein-Sieg University of Applied Sciences Rheinbach Germany. |
| Source: | JIMD reports [JIMD Rep] 2025 Jul 29; Vol. 66 (5), pp. e70032. Date of Electronic Publication: 2025 Jul 29 (Print Publication: 2025). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2192-8304 |
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| DOI: | 10.1002/jmd2.70032 |
