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Last Updated: 10/31/2025
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Found 766 publications
Association between genotype and phenotype in children with Phenylalanine hydroxylase deficiency in Lianyungang area
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 05, 2025
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Journal: Frontiers in genetics
Published: April 24, 2025
Generation of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene.
Journal: Stem cell research
Published: March 25, 2025
The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies.
Journal: Nutrients
Published: March 01, 2025
Maternal Phenylketonuria: Consequences of Dietary Non-Adherence and Gaps in Preconception Care-A Case Report.
Journal: Journal of clinical medicine
Published: January 02, 2025
Portable collection of breath phenylpyruvic acid for noninvasive assessment of pediatric hyperphenylalaninemia by mass spectrometry.
Journal: Talanta
Published: December 19, 2024
Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.
Journal: Orphanet journal of rare diseases
Published: November 22, 2024
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
Journal: Orphanet journal of rare diseases
Published: October 21, 2024
Last Updated: 10/31/2025