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Academic Journal

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

  • Authors : Yoldas Celik M; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey.; Canda E

Subjects: 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*/diagnosis ; Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/deficiency Glutaric Acidemia I

  • Source: European journal of pediatrics [Eur J Pediatr] 2024 Dec 10; Vol. 184 (1), pp. 72. Date of Electronic Publication: 2024 Dec 10.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076

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Academic Journal

Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.

  • Authors : Beyzaei Z; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran.; Moravej H

Subjects: 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*/diagnosis; Humans Methylmalonic acidemia

  • Source: BMC pediatrics [BMC Pediatr] 2024 Dec 04; Vol. 24 (1), pp. 795. Date of Electronic Publication: 2024 Dec 04.Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431

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Academic Journal

Tannic acid: A possible therapeutic agent for hypermethioninemia-induced neurochemical changes in young rats.

  • Authors : Meine BM; Laboratório de Biomarcadores, Programa de Pós-Graduação em Bioquímica e Bioprospecção, Centro de Ciências Químicas, Farmacêuticas e de Alimentos, Universidade Federal de Pelotas, Campus Universitário S/N, Pelotas, RS, Brazil.; de Mello JE

Subjects: Tannins*/Tannins*/Tannins*/pharmacology ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/drug therapy ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/metabolismHypermethioninemia

  • Source: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2024 Nov 19; Vol. 734, pp. 150635. Date of Electronic Publication: 2024 Aug 30.Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Neurodegenerative biomarkers and inflammation in patients with propionic and methylmalonic acidemias: effect of L-carnitine treatment.

  • 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

  • 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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Academic Journal

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.

  • Authors : Yin Z; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.; Zhang C

Subjects: 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*/diagnosis ; Genotype* Methylmalonic acidemia

  • Source: European journal of medical research [Eur J Med Res] 2024 Nov 10; Vol. 29 (1), pp. 540. Date of Electronic Publication: 2024 Nov 10.Publisher: BioMed Central Country of Publication: England NLM ID: 9517857 Publication Model: Electronic Cited Medium: Internet ISSN: 2047-783X

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Academic Journal

Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.

  • Authors : Ma X; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China.; Lu M

Subjects: Methionine Adenosyltransferase*/Methionine Adenosyltransferase*/Methionine Adenosyltransferase*/deficiency ; Methionine Adenosyltransferase*/Methionine Adenosyltransferase*/Methionine Adenosyltransferase*/genetics ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics Hypermethioninemia

  • Source: BMC pediatrics [BMC Pediatr] 2024 Nov 07; Vol. 24 (1), pp. 713. Date of Electronic Publication: 2024 Nov 07.Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431

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Academic Journal

Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.

  • Authors : Zhou W; Neonatal Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu, China.; Huang T

Subjects: Carnitine*/Carnitine*/Carnitine*/analogs & derivatives ; Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods ; Anti-Bacterial Agents*/Anti-Bacterial Agents*/Anti-Bacterial Agents*/therapeutic use Acidemia, isovaleric

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Nov; Vol. 12 (11), pp. e70034.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Nigrostriatal tract defects in mice with aromatic l-amino acid decarboxylase deficiency.

  • Authors : Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

Subjects: Substantia Nigra*/Substantia Nigra*/Substantia Nigra*/metabolism ; Substantia Nigra*/Substantia Nigra*/Substantia Nigra*/pathology ; Corpus Striatum*/Corpus Striatum*/Corpus Striatum*/metabolism Aromatic amino acid decarboxylase deficiency

  • Source: Neurobiology of disease [Neurobiol Dis] 2024 Nov; Vol. 202, pp. 106707. Date of Electronic Publication: 2024 Oct 19.Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Teaching NeuroImage: An 11-Month-Old Girl With Glutaric Acidemia Type 1.

  • Authors : Duan J; From the Department of Pediatrics, The First Affiliated Hospital of Anhui Medical University, China.

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*/complications ; Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/deficiency Glutaric Acidemia I

  • Source: Neurology [Neurology] 2024 Oct 22; Vol. 103 (8), pp. e209878. Date of Electronic Publication: 2024 Sep 16.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age.

  • 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

  • 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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  • 1-10 of  8,422 results for ""Amino Acid Metabolism, Inborn Errors""