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Authors :
Du M; Henan Pediatric Clinical Research Center and Key Laboratory of Child Brain Injury, Institute of Neuroscience, Third Affiliated Hospital of Zhengzhou University, No. 7, Kangfuqian Street, Erqi District, Zhengzhou, China.; Department of Endocrinology, Genetics and Metabolism, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnostic imaging ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/blood ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/complications Methylmalonic acidemia
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Source:
Scientific reports [Sci Rep] 2024 Oct 14; Vol. 14 (1), pp. 23992. Date of Electronic Publication: 2024 Oct 14.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:
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Authors :
Boy N; Centre for Child and Adolescent Medicine, Clinic I, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany.; Mohr A
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*complications ; Brain/Brain/Brain/*pathology ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*complications Glutaric Acidemia I
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Source:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Nov; Vol. 44 (6), pp. 1343-1352. Date of Electronic Publication: 2021 Sep 30.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665
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Authors :
Gonzalez Melo M; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Switzerland. Electronic address: .; Remacle N
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Brain/Brain/Brain/*metabolism ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*genetics Glutaric Acidemia I
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Source:
Molecular genetics and metabolism [Mol Genet Metab] 2021 Jun; Vol. 133 (2), pp. 157-181. Date of Electronic Publication: 2021 Apr 18.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Leandro J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Subjects: 2-Aminoadipic Acid/2-Aminoadipic Acid/2-Aminoadipic Acid/*analogs & derivatives ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism ; Brain/Brain/Brain/*metabolism Glutaric Acidemia I
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Source:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Nov; Vol. 43 (6), pp. 1154-1164. Date of Electronic Publication: 2020 Jul 26.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665
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Authors :
Strauss KA; Clinic for Special Children, Strasburg, PA, USA; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Lancaster, PA, USA
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Brain/Brain/Brain/*metabolism ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*genetics Glutaric Acidemia I
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Source:
Molecular genetics and metabolism [Mol Genet Metab] 2020 Nov; Vol. 131 (3), pp. 325-340. Date of Electronic Publication: 2020 Oct 04.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Bouchereau J; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, Assistance-Publique Hôpitaux de Paris, University of Paris, Medical School Paris-Descartes, Paris, France.; Schiff M
Subjects: Aldehyde Dehydrogenase/Aldehyde Dehydrogenase/Aldehyde Dehydrogenase/*deficiency ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism ; Brain/Brain/Brain/*metabolism Glutaric Acidemia I; Pyridoxine-dependent epilepsy
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Source:
The Journal of nutrition [J Nutr] 2020 Oct 01; Vol. 150 (Suppl 1), pp. 2556S-2560S.Publisher: Elsevier Country of Publication: United States NLM ID: 0404243 Publication Model: Print Cited Medium: Internet ISSN: 1541-6100
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Authors :
Kirby T; Department of Pharmacotherapy, Health Sciences Building Room 210C, College of Pharmacy and Pharmaceutical Sciences, Washington State University, 412 E. Spokane Falls Boulevard, Spokane, WA, 99202-2131, USA.; Walters DC
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism ; Amino Acids/Amino Acids/Amino Acids/*metabolism ; Brain/Brain/Brain/*metabolism succinic semialdehyde dehydrogenase deficiency
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Source:
Metabolic brain disease [Metab Brain Dis] 2020 Apr; Vol. 35 (4), pp. 601-614. Date of Electronic Publication: 2020 MarPublisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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