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Authors :
Dos Reis BG; Departamento de Análises Clínicas, Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.; Serviço de Genética Médica, Hospital de Clíınicas de Porto Alegre, Ramiro Barcelos, 2350, CEP 90035-003, RS, Porto Alegre, Brazil.
Subjects: Carnitine*/Carnitine*/Carnitine*/therapeutic use ; Biomarkers*/Biomarkers*/Biomarkers*/blood ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/blood Methylmalonic acidemia
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Source:
Metabolic brain disease [Metab Brain Dis] 2024 Nov 16; Vol. 40 (1), pp. 6. Date of Electronic Publication: 2024 Nov 16.Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7365
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Authors :
Waisbren SE; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. .
Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/therapy ; Methylmalonyl-CoA Mutase*/Methylmalonyl-CoA Mutase*/Methylmalonyl-CoA Mutase*/geneticsMethylmalonic acidemia
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Metabolic brain disease [Metab Brain Dis] 2022 Jun; Vol. 37 (5), pp. 1317-1335. Date of Electronic Publication: 2022 Mar 29.Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Havalı C; Department of Pediatrics, Division of Neurology, Bursa Yuksek İhtisas Training and Research Hospital, 16310, Yıldırım/Bursa, Turkey. .; Dorum S
Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/metabolism
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Metabolic brain disease [Metab Brain Dis] 2021 Dec; Vol. 36 (8), pp. 2255-2262. Date of Electronic Publication: 2021 Sep 22.Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Sitta A; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos, 2350, 90035-003, Porto Alegre, RS, Brazil. .; Guerreiro G
Subjects: Mutation*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*diagnosis Glutaric Acidemia I
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Metabolic brain disease [Metab Brain Dis] 2021 Feb; Vol. 36 (2), pp. 205-212. Date of Electronic Publication: 2020 Oct 16.Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Kurkina MV; Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (FSBI, RCMG), Moskvorechie 1, Moscow, 115522, Russia. .; Mihaylova SV
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*epidemiology ; 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/*epidemiology Glutaric Acidemia I
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Metabolic brain disease [Metab Brain Dis] 2020 Aug; Vol. 35 (6), pp. 1009-1016. Date of Electronic Publication: 2020 Apr 02.Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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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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Metabolic brain disease [Metab Brain Dis] 2020 Apr; Vol. 35 (4), pp. 601-614. Date of Electronic Publication: 2020 Mar 14.Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Zayed H; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar. .; El Khayat H
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*diagnosis ; Glutaryl-CoA Dehydrogenase/Glutaryl-CoA Dehydrogenase/Glutaryl-CoA Dehydrogenase/*deficiency Glutaric Acidemia I
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Metabolic brain disease [Metab Brain Dis] 2019 Aug; Vol. 34 (4), pp. 1231-1241. Date of Electronic Publication: 2019 May 06.Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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