Avoiding phenylketonuria: why parents seek prenatal diagnosis

A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant.

Canadian Medical Association journal·2010

What we know that could influence future treatment of phenylketonuria.

Journal of inherited metabolic disease·2008

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

Annals of human genetics·2008

Recommendations for locus-specific databases and their curation.

Human mutation·2007

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

Human mutation·2006

After the genome--the phenome?

Journal of inherited metabolic disease·2004

Trends in Postmenstrual Age at Discharge and Predictive Factors Among a Contemporary Cohort of Infants Born Preterm.

The Journal of pediatrics·2026

Safety and Efficacy of a Novel Aerosolized Surfactant (APC-0101) for the Treatment of Respiratory Distress Syndrome in Preterm Infants: A Randomized Phase 2b Study.

The Journal of pediatrics·2026

Effect of Extended Infusion versus Intermittent Bolus Feedings on Hospital Weight Gain in Extremely Low Birth Weight Infants Born at <29 Weeks of Gestation: A Randomized Non-Inferiority Clinical Trial.

The Journal of pediatrics·2026

Racial and Ethnic Variation in Outpatient Respiratory Outcomes in Bronchopulmonary Dysplasia.

The Journal of pediatrics·2026

Factors Influencing Pediatrician Life Satisfaction.

The Journal of pediatrics·2026

Association of Birth Weight with Delivery Room Endotracheal Intubation Success in Newborn Infants.

The Journal of pediatrics·2026

Intracavitary electrocardiography for 1‑Fr epicutaneous‑cava catheter tip location in neonates: 6‑Year retrospective study.

The journal of vascular access·2026

CNN-stylized dual-path CNN-Transformer for fetal head and pubic symphysis segmentation in intrapartum ultrasound.

Frontiers in physiology·2026

Survival and Favorable Neurological Outcome Following Home Delivery at 22 Weeks of Gestation: A Case Report.

Cureus·2026

Diagnosis of Pituitary Stalk Interruption Syndrome in a Newborn Presenting With Recurrent Hypoglycemia: A Rare Case Report.

Cureus·2026

Diagnostic Accuracy of Hepatic Subcapsular Flow on Color Doppler Ultrasonography and Preoperative Liver Biopsy for the Diagnosis of Biliary Atresia in Neonatal Cholestasis: A Pilot Diagnostic Accuracy Study.

Cureus·2026

Age-Adjusted AFP Interpretation in Neonatal Sacrococcygeal Teratoma: Why Adult Reference Ranges May Mislead.

Clinical case reports·2026

Related Experiment Videos

Avoiding phenylketonuria: why parents seek prenatal diagnosis

Related Concept Videos

A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant.

What we know that could influence future treatment of phenylketonuria.

The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England.

Recommendations for locus-specific databases and their curation.

CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

After the genome--the phenome?

Trends in Postmenstrual Age at Discharge and Predictive Factors Among a Contemporary Cohort of Infants Born Preterm.

Safety and Efficacy of a Novel Aerosolized Surfactant (APC-0101) for the Treatment of Respiratory Distress Syndrome in Preterm Infants: A Randomized Phase 2b Study.

Effect of Extended Infusion versus Intermittent Bolus Feedings on Hospital Weight Gain in Extremely Low Birth Weight Infants Born at <29 Weeks of Gestation: A Randomized Non-Inferiority Clinical Trial.

Racial and Ethnic Variation in Outpatient Respiratory Outcomes in Bronchopulmonary Dysplasia.

Factors Influencing Pediatrician Life Satisfaction.

Association of Birth Weight with Delivery Room Endotracheal Intubation Success in Newborn Infants.

Intracavitary electrocardiography for 1‑Fr epicutaneous‑cava catheter tip location in neonates: 6‑Year retrospective study.

CNN-stylized dual-path CNN-Transformer for fetal head and pubic symphysis segmentation in intrapartum ultrasound.

Survival and Favorable Neurological Outcome Following Home Delivery at 22 Weeks of Gestation: A Case Report.

Diagnosis of Pituitary Stalk Interruption Syndrome in a Newborn Presenting With Recurrent Hypoglycemia: A Rare Case Report.

Diagnostic Accuracy of Hepatic Subcapsular Flow on Color Doppler Ultrasonography and Preoperative Liver Biopsy for the Diagnosis of Biliary Atresia in Neonatal Cholestasis: A Pilot Diagnostic Accuracy Study.

Age-Adjusted AFP Interpretation in Neonatal Sacrococcygeal Teratoma: Why Adult Reference Ranges May Mislead.

Related Experiment Videos

Avoiding phenylketonuria: why parents seek prenatal diagnosis

Related Concept Videos

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