Publications:

Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province.

Frontiers In Genetics

Xie, Kang K; Zeng, Baitao B; Zhang, Liuyang L; Chen, Shaohong S; Zou, Yongyi Y; Yuan, Huizhen H; Huang, Shuhui S; Wang, Feng F; Lu, Qing Q; Liu, Yanqiu Y; Yang, Bicheng B

Publication Date: 2022

Variant appearance in text: PTPS: 238A>G

PubMed Link: 36583021

Variant Present in the following documents:

• Main text
• fgene-13-1077729.pdf

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Genetic etiology and clinical challenges of phenylketonuria.

Human Genomics

Elhawary, Nasser A NA; AlJahdali, Imad A IA; Abumansour, Iman S IS; Elhawary, Ezzeldin N EN; Gaboon, Nagwa N; Dandini, Mohammed M; Madkhali, Abdulelah A; Alosaimi, Wafaa W; Alzahrani, Abdulmajeed A; Aljohani, Fawzia F; Melibary, Ehab M EM; Kensara, Osama A OA

Publication Date: 2022-07-19

Variant appearance in text: PTPS: Met80Val

PubMed Link: 35854334

Variant Present in the following documents:

• Main text
• 40246_2022_Article_398.pdf

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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Orphanet Journal Of Rare Diseases

Alfadhel, Majid M; Benmeakel, Mohammed M; Hossain, Mohammad Arif MA; Al Mutairi, Fuad F; Al Othaim, Ali A; Alfares, Ahmed A AA; Al Balwi, Mohammed M; Alzaben, Abdullah A; Eyaid, Wafaa W

Publication Date: 2016-09-15

Variant appearance in text: PTPS: Met80Val

PubMed Link: 27629047

Variant Present in the following documents:

• Main text
• 13023_2016_Article_510.pdf

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