Publications:

A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous.

Frontiers In Genetics

Zhang, Chunyan C; Dha, Drun D; Cheng, Yuxuan Y; Ma, Ya Y; Meng, Yan Y; Tse, Drun D; Ngawang, Dolma D; Dekyi, Pedrun P; Jiang, Tao T; Shu, Yang Y; Cui, Jiayi J; Li, Jing J; Tian, Yaping Y

Publication Date: 2022

Variant appearance in text: PAH: 1054G>T; G352C

PubMed Link: 36299584

Variant Present in the following documents:

• Main text
• fgene-13-941938.pdf

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Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria.

Frontiers In Pediatrics

Leuzzi, Vincenzo V; Mannarelli, Daniela D; Manti, Filippo F; Pauletti, Caterina C; Locuratolo, Nicoletta N; Carducci, Carla C; Carducci, Claudia C; Vanacore, Nicola N; Fattapposta, Francesco F

Publication Date: 2014

Variant appearance in text: PAH: Gly352Cys

PubMed Link: 25003100

Variant Present in the following documents:

• Main text
• fped-02-00057.pdf

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics

Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A

Publication Date: 2007-11

Variant appearance in text: PAH: G352C

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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