Maternal Hyperphenylalaninemia Latest Advances

Evaluation of Nutritional Habits and Quality of Life of Mothers of Children With Metabolic Diseases Requiring a Restricted Diet.

Journal: Clinical pediatrics

Published: June 17, 2026

Machine learning models for reducing false positives in Fluorometric newborn screening of phenylketonuria: Development, validation, and clinical application.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: February 04, 2026

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

Journal: International journal of neonatal screening

Published: December 30, 2025

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.

Journal: Nutrients

Published: December 17, 2025

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.

Journal: Diagnostics (Basel, Switzerland)

Published: December 08, 2025

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.

Journal: Frontiers in pediatrics

Published: May 26, 2025

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.

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.

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

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

Journal: SAGE open medicine

Published: January 12, 2025

Maternal Hyperphenylalaninemia Latest Advances

Find the Latest Research About Maternal Hyperphenylalaninemia

Evaluation of Nutritional Habits and Quality of Life of Mothers of Children With Metabolic Diseases Requiring a Restricted Diet.

Evaluation of Nutritional Habits and Quality of Life of Mothers of Children With Metabolic Diseases Requiring a Restricted Diet.

Machine learning models for reducing false positives in Fluorometric newborn screening of phenylketonuria: Development, validation, and clinical application.

Machine learning models for reducing false positives in Fluorometric newborn screening of phenylketonuria: Development, validation, and clinical application.

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.

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

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.

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.

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.

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.

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.

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.