Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants

Author:

Ngiwsara Lukana,Vatanavicharn NithiwatORCID,Sawangareetrakul Phannee,Liammongkolkul Somporn,Ratanarak Pisanu,Boonyawat Boonchai,Srisomsap Chantragan,Champattanachai Voraratt,Ketudat-Cairns James,Wasant Pornswan,Svasti Jisnuson

Funder

Chulabhorn Research Institute

Faculty of Medicine Siriraj Hospital, Mahidol University

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Reference28 articles.

1. Blau N, Martinez A, Hoffmann GF, Thöny B (2018) DNAJC12 deficiency: a new strategy in the diagnosis of hyperphenylalaninemias. Mol Genet Metab 123:1–5. https://doi.org/10.1016/j.ymgme.2017.11.005

2. Scriver CR (2007) The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat 28:831–845. https://doi.org/10.1002/humu.20526

3. Dobson JC, Williamson ML, Azen C, Koch R (1977) Intellectual assessment of 111 four-year-old children with phenylketonuria. Pediatrics 60:822–827

4. Burgard P, Lachmann RH, Walter J (2016) Hyperphenylalaninaemia. In: Saudubray JM, Baumgartner MR, Walter J (eds) Inborn metabolic diseases diagnosis and treatment, 6th edn. Springer, Berlin/Heidelberg, pp 251–264

5. Pangkanon S, Ratrisawadi V, Charoensiriwatana W, Techasena W, Boonpuan K, Srisomsap C, Svasti J (2003) Phenylketonuria detected by the neonatal screening program in Thailand. Southeast Asian J Trop Med Public Health 34:179–181

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