Publications:

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.

Frontiers In Genetics

Vela-Amieva, M M; Alcántara-Ortigoza, M A MA; Ibarra-González, I I; González-Del Angel, A A; Fernández-Hernández, L L; Guillén-López, S S; López-Mejía, L L; Carrillo-Nieto, R I RI; Fiesco-Roa, M O MO; Fernández-Lainez, C C

Publication Date: 2022

Variant appearance in text: PTS: 338A>G

PubMed Link: 36313470

Variant Present in the following documents:

• Main text
• fgene-13-993612.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: PTS: Tyr113Cys

PubMed Link: 35854334

Variant Present in the following documents:

• Main text
• 40246_2022_Article_398.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: PTS: 338A>G

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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