Maternal Hyperphenylalaninemia Latest Advances

Prenatal, Perinatal, and Familial Risk Factors in the Differential Diagnosis Between Autism Spectrum Disorder and Phenylketonuria: A Retrospective Case-Control Study in the Absence of Neonatal Screening.

Journal: Journal of child neurology

Published: July 24, 2026

Enhancing Genotype-Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions.

Journal: Genetic testing and molecular biomarkers

Published: July 14, 2026

Population-based newborn screening for inherited metabolic diseases in Beijing, China: findings from 404,990 infants.

Journal: Molecular genetics and metabolism

Published: June 25, 2026

How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.

Journal: Nutrients

Published: May 25, 2026

Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study.

Journal: Orphanet journal of rare diseases

Published: April 25, 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

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.

Journal: Orphanet journal of rare diseases

Published: October 14, 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

Maternal Hyperphenylalaninemia Latest Advances

Find the Latest Research About Maternal Hyperphenylalaninemia

Prenatal, Perinatal, and Familial Risk Factors in the Differential Diagnosis Between Autism Spectrum Disorder and Phenylketonuria: A Retrospective Case-Control Study in the Absence of Neonatal Screening.

Prenatal, Perinatal, and Familial Risk Factors in the Differential Diagnosis Between Autism Spectrum Disorder and Phenylketonuria: A Retrospective Case-Control Study in the Absence of Neonatal Screening.

Enhancing Genotype-Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions.

Enhancing Genotype-Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions.

Population-based newborn screening for inherited metabolic diseases in Beijing, China: findings from 404,990 infants.

Population-based newborn screening for inherited metabolic diseases in Beijing, China: findings from 404,990 infants.

How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.

How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.

Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study.

Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study.

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.

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.

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.