Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
Author:
Funder
Thailand Research Fund
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-017-0464-x.pdf
Reference33 articles.
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2. Matalon R, Michals K. Phenylketonuria: screening, treatment and maternal PKU. Clin Biochem. 1991;24(4):337–42.
3. Al Hafid N, Christodoulou J. Phenylketonuria: a review of current and future treatments. Transl Pediatr. 2015;4(4):304–17.
4. Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, Levy H. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab. 2007;92(1–2):63–70.
5. Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab. 2011;104(Suppl):S2–9.
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