Maternal Hyperphenylalaninemia Latest Advances

Find the Latest Research About Maternal Hyperphenylalaninemia

Last Updated: 02/24/2026

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Found 768 publications

Association between genotype and phenotype in children with Phenylalanine hydroxylase deficiency in Lianyungang area

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

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.

Journal: Frontiers in pediatrics
Published: May 26, 2025

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.

Journal: Frontiers in genetics
Published: April 24, 2025

Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice.

Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice.

Journal: JIMD reports
Published: March 31, 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.

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.

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

Evaluating adverse events of pegvaliase-pqpz in phenylketonuria treatment: A comprehensive safety assessment.

Evaluating adverse events of pegvaliase-pqpz in phenylketonuria treatment: A comprehensive safety assessment.

Journal: SAGE open medicine
Published: January 12, 2025

Maternal Phenylketonuria: Consequences of Dietary Non-Adherence and Gaps in Preconception Care-A Case Report.

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.

Portable collection of breath phenylpyruvic acid for noninvasive assessment of pediatric hyperphenylalaninemia by mass spectrometry.

Journal: Talanta
Published: December 19, 2024

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Journal: Nutrients
Published: December 10, 2024

Evaluation of primary health care nurses' knowledge and neonatal screening performance for phenylketonuria in Alexandria.

Evaluation of primary health care nurses' knowledge and neonatal screening performance for phenylketonuria in Alexandria.

Journal: BMC nursing
Published: November 26, 2024

Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.

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
Showing 1-12 of 768

Last Updated: 02/24/2026