Publications:

An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.

Genes

Vela-Amieva, Marcela M; Alcántara-Ortigoza, Miguel Angel MA; Ibarra-González, Isabel I; González-Del Angel, Ariadna A; Fernández-Hernández, Liliana L; Guillén-López, Sara S; López-Mejía, Lizbeth L; Carrillo-Nieto, Rosa Itzel RI; Belmont-Martínez, Leticia L; Fernández-Lainez, Cynthia C

Publication Date: 2021-10-23

Variant appearance in text: PAH: Gln304=

PubMed Link: 34828281

Variant Present in the following documents:

• Main text
• genes-12-01676.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: PAH: 912G>A; rs199475583

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.

Springerplus

Biglari, Alireza A; Saffari, Fatemeh F; Rashvand, Zahra Z; Alizadeh, Safarali S; Najafipour, Reza R; Sahmani, Mehdi M

Publication Date: 2015

Variant appearance in text: PAH: 912G>A; Q304Q

PubMed Link: 26413448

Variant Present in the following documents:

• Main text
• 40064_2015_Article_1309.pdf

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Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years.

Jimd Reports

Couce, M L ML; Bóveda, M D MD; Valerio, E E; Pérez-Muñuzuri, A A; Fraga, J M JM

Publication Date: 2012

Variant appearance in text: PAH: Q304Q

PubMed Link: 23430859

Variant Present in the following documents:

• Main text

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