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Authors :
Zhang R; Center of Neonatal Disease Screening, Department of Clinical Genetics, Northwest Women's and Children's Hospital, 1616 Yanxiang Road, Xi'an, Shaanxi Province, China.; Qiang R
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 ; High-Throughput Nucleotide Sequencing* Methylmalonic acidemia
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Source:
Scientific reports [Sci Rep] 2021 Jan 29; Vol. 11 (1), pp. 2699. Date of Electronic Publication: 2021 Jan 29.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:
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Authors :
Pearl PL; Children's National Medical Center, George Washington University School of Medicine and Columbian College of Arts and Sciences, Washington, DC, USA. Electronic address: .
Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Aromatic-L-Amino-Acid Decarboxylases/Aromatic-L-Amino-Acid Decarboxylases/Aromatic-L-Amino-Acid Decarboxylases/*deficiency ; Autonomic Nervous System Diseases/Autonomic Nervous System Diseases/Autonomic Nervous System Diseases/*diagnosis Aromatic amino acid decarboxylase deficiency; Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency; Segawa syndrome, autosomal recessive
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Source:
Handbook of clinical neurology [Handb Clin Neurol] 2013; Vol. 113, pp. 1819-25.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0166161 Publication Model: Print Cited Medium: Print ISSN: 0072-9752 (Print)
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Authors :
Erlandsen H; The Scripps Research Institute, Department of Molecular Biology and Institute for Childhood and Neglected Diseases, La Jolla, CA 92037, USA. ; Stevens RC
Subjects: 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/*metabolism ; Biopterins/Biopterins/Biopterins/*analogs & derivatives
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Source:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2001 Apr; Vol. 24 (2), pp. 213-30.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Print ISSN: 0141-8955 (Print)
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