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Tekrarlayan ketoasidoz atakları: Keton metabolizma bozuklukluğu olabilir mi?
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- Journal of Dr. Behcet Uz Children's Hospital, 2018, v. 8, n. 2, p. 115, doi. 10.5222/buchd.2018.115
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Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis.
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- Biology (2079-7737), 2016, v. 5, n. 4, p. 40, doi. 10.3390/biology5040040
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- Publication type:
- Article
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
- Published in:
- Metabolic Brain Disease, 2016, v. 31, n. 3, p. 587, doi. 10.1007/s11011-015-9778-6
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- Article