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MeSH:(Phenylketonurias*)

3.Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing.

Yanyan CAO ; Yujin QU ; Fang SONG ; Jinli BAI ; Yuwei JIN ; Hong WANG

Chinese Journal of Medical Genetics 2015;32(1):16-20

4.Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China.

Xin-Mei MAO ; Jiang HE ; Yuan LIU ; Xiao-Qiang LI ; Wu-Zhong YU ; Zhi-Hui GAO ; Jing CAI

Chinese Journal of Contemporary Pediatrics 2014;16(3):259-262

5.Improved screening efficiency for phenylketonuria using a modified bacterial inhibition assay protocol- Autoclaving the bloodspot.

Carrillo Maria Constancia O. ; Tirona Joy ; Capistrano-Estrada Sylvia ; David-Padilla Carmencita

Acta Medica Philippina 2009;43(2):29-31

6.The Study of DNA Mutations of Phenylketonuria in Koreans.

Su Jung YOO ; Yong Hee HONG ; Yong Wha LEE ; Sung Chul JUNG ; Chang Seok KI ; Dong Hwan LEE

Journal of Genetic Medicine 2008;5(1):26-33

7.Two Cases of Tetrahydrobiopterin Deficiency.

Jee Won CHOI ; Sei Won YANG ; Hyung Ro MOON ; Se Chin CHO

Journal of the Korean Pediatric Society 1995;38(3):397-403

8.Bone Changes in Phenylketonuria.

Hyun Sook HONG ; Hae Kyung LEE ; Kui Hyang KWON ; Deuk Lin CHOI ; Dong Hwan LEE

Journal of the Korean Radiological Society 1998;38(2):367-370

9.MR Imaging of Phenylketonuria.

Hyun Sook HONG ; Dae Ho KIM ; Hae Kyung LEE ; Kui Hyang KWON ; Deuk Lin CHOI ; Dong Hwan LEE

Journal of the Korean Radiological Society 1997;37(3):541-545

10.Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.

Chloe Miu MAK ; Chun-Hung KO ; Ching-Wan LAM ; Wai-Ling LAU ; Wai-Kwan SIU ; Sammy Pak-Lam CHEN ; Chun-Yiu LAW ; Chi-Kong LAI ; Chak-Man YU ; Albert Yan-Wo CHAN

Chinese Medical Journal 2011;124(16):2556-2558

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