Genomic profiling and implications for genotype-based treatment of 131 patients with phenylketonuria: characterization of novel p.Pro416Leu PAH variant

Kristel Klaassen; Bozica Kecman; Stankovic, Sara; Jovana Komazec; Andjelkovic, Marina; Milena Ugrin; Parezanovic, Marina; Stevanovic, Nina; Grujic, Kristina; Jocic, Nikola; Vesna Spasovski; Skakic, Anita; Pavlovic, Sonja; Stojiljkovic, Maja; Djordjevic, Maja

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eNauka > Results > Genomic profiling and implications for genotype-based treatment of 131 patients with phenylketonuria: characterization of novel p.Pro416Leu PAH variant

Title:	Genomic profiling and implications for genotype-based treatment of 131 patients with phenylketonuria: characterization of novel p.Pro416Leu PAH variant
Authors:	Kristel Klaassen ; Bozica Kecman; Stankovic, Sara; Jovana Komazec; Andjelkovic, Marina; Milena Ugrin; Parezanovic, Marina; Stevanovic, Nina; Grujic, Kristina; Jocic, Nikola; Vesna Spasovski; Skakic, Anita; Pavlovic, Sonja; Stojiljkovic, Maja; Djordjevic, Maja;
Issue Date:	2025
Publication:	ICIEM 2025 (International Congress of Inborn Errors of Metabolism 2025)
Type:	Conference Paper
URI:	https://enauka.gov.rs/handle/123456789/1040583
Metadata source:	(Preuzeto iz ORCID-a) Klaassen-Ljubičić, Kristel
M-category:	Mp. category will be shown later

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