Publications:

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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: PAH: Val106Ala

PubMed Link: 35854334

Variant Present in the following documents:

• Main text
• 40246_2022_Article_398.pdf

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Phenylketonuria.

Nature Reviews. Disease Primers

van Spronsen, Francjan J FJ; Blau, Nenad N; Harding, Cary C; Burlina, Alberto A; Longo, Nicola N; Bosch, Annet M AM

Publication Date: 2021-05-20

Variant appearance in text: PAH: Val106Ala

PubMed Link: 34017006

Variant Present in the following documents:

• Main text

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Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia.

International Journal Of Molecular Sciences

Sarodaya, Neha N; Suresh, Bharathi B; Kim, Kye-Seong KS; Ramakrishna, Suresh S

Publication Date: 2020-07-15

Variant appearance in text: PAH: V106A

PubMed Link: 32679806

Variant Present in the following documents:

• Main text
• ijms-21-04996.pdf

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Phenylketonuria: translating research into novel therapies.

Translational Pediatrics

Ho, Gladys G; Christodoulou, John J

Publication Date: 2014-04

Variant appearance in text: PAH: Val106Ala

PubMed Link: 26835324

Variant Present in the following documents:

• Main text

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Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Journal Of Inherited Metabolic Disease

Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V

Publication Date: 2011-02

Variant appearance in text: PAH: V106A

PubMed Link: 20821054

Variant Present in the following documents:

• 10545_2011_Article_9371.pdf

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Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor.

The Journal Of Biological Chemistry

Gersting, Søren W SW; Staudigl, Michael M; Truger, Marietta S MS; Messing, Dunja D DD; Danecka, Marta K MK; Sommerhoff, Christian P CP; Kemter, Kristina F KF; Muntau, Ania C AC

Publication Date: 2010-10-01

Variant appearance in text: PAH: V106A

PubMed Link: 20667834

Variant Present in the following documents:

• Main text

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Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.

The Journal Of Clinical Investigation

Pey, Angel L AL; Ying, Ming M; Cremades, Nunilo N; Velazquez-Campoy, Adrian A; Scherer, Tanja T; Thöny, Beat B; Sancho, Javier J; Martinez, Aurora A

Publication Date: 2008-08

Variant appearance in text: PAH: V106A

PubMed Link: 18596920

Variant Present in the following documents:

• Main text

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