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Authors :
Mateu-Bosch A; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona (UB), Barcelona, Spain.
Subjects: Lysine*/Lysine*/Lysine*/genetics ; Neuroblastoma* ; Amino Acid Metabolism, Inborn Errors* Glutaric Acidemia I
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Source:
Gene therapy [Gene Ther] 2024 Jan; Vol. 31 (1-2), pp. 12-18. Date of Electronic Publication: 2023 Nov 20.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Kondou H; Department of Forensic Medicine, Graduate School of Medicine, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.; Ichioka H
Subjects: Lysine*/Lysine*/Lysine*/metabolism ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/metabolism; Male
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Source:
Forensic science, medicine, and pathology [Forensic Sci Med Pathol] 2022 Dec; Vol. 18 (4), pp. 474-477. Date of Electronic Publication: 2022 Jun 01.Publisher: Humana Press Country of Publication: United States NLM ID: 101236111 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Goetzman ES; University of Pittsburgh School of Medicine and UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.; Vockley J
Subjects: Amino Acid Metabolism, Inborn Errors* ; Lysine*/Lysine*/Lysine*/metabolism; Acylation
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Source:
Science translational medicine [Sci Transl Med] 2022 May 25; Vol. 14 (646), pp. eabq4863. Date of Electronic Publication: 2022 May 25.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic
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Authors :
Leandro J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*genetics ; Epilepsy/Epilepsy/Epilepsy/*genetics Glutaric Acidemia I; Pyridoxine-dependent epilepsy
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Source:
Molecular genetics and metabolism [Mol Genet Metab] 2020 Sep - Oct; Vol. 131 (1-2), pp. 14-22. Date of Electronic Publication: 2020 Jul 30.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 :
Biagosch C; Institute of Human Genetics, Technical University Munich, Trogerstr. 32, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum Munich, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*metabolism ; Brain/Brain/Brain/*metabolism ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*metabolism Glutaric Acidemia I
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Source:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2017 Sep; Vol. 1863 (9), pp. 2220-2228. Date of Electronic Publication: 2017 May 22.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0925-4439
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Authors :
Bernstein L; Department of Pediatrics, Section of Medical Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Coughlin CR
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diet therapy ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*diet therapy ; Child Nutritional Physiological Phenomena/Child Nutritional Physiological Phenomena/Child Nutritional Physiological Phenomena/*physiology Glutaric Acidemia I
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Source:
Nutrients [Nutrients] 2020 Oct 16; Vol. 12 (10). Date of Electronic Publication: 2020 Oct 16.Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN:
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Authors :
Gao JZ; Department of Pediatrics, Tongji Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. .; Zhang C
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*pathology ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*pathology ; Glutaryl-CoA Dehydrogenase/Glutaryl-CoA Dehydrogenase/Glutaryl-CoA Dehydrogenase/*deficiency Glutaric Acidemia I
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Source:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2017 Sep; Vol. 19 (9), pp. 1014-1019.Publisher: Zhongguo dang dai er ke za zhi she Country of Publication: China NLM ID: 100909956 Publication Model: Print Cited Medium: Print ISSN:
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Authors :
Sauer SW; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, D-69120 Heidelberg, Germany.; Opp S
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*genetics ; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics Glutaric Acidemia I
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Source:
Biochimica et biophysica acta [Biochim Biophys Acta] 2015 May; Vol. 1852 (5), pp. 768-77. Date of Electronic Publication: 2015 Jan 02.Publisher: Elsevier Pub. Co Country of Publication: Netherlands NLM ID: 0217513 Publication Model: Print-Electronic Cited Medium: Print ISSN:
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Authors :
Seminotti B; Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.; Ribeiro RT
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*pathology ; Brain/Brain/Brain/*metabolism ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*pathology Glutaric Acidemia I
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Source:
Journal of the neurological sciences [J Neurol Sci] 2014 Sep 15; Vol. 344 (1-2), pp. 105-13. Date of Electronic Publication: 2014 Jun 22.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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