Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

JIMD reports·2015

A psychosocial model of a medical problem: Maternal phenylketonuria.

The journal of primary prevention·2013

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

JIMD reports·2013

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

Molecular genetics and metabolism·2012

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Journal of human genetics·2009

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Molecular genetics and metabolism·2008

Efficacy and safety of intrapyloric botulinum toxin injection in pediatrics: Current evidence and future directions.

Journal of pediatric gastroenterology and nutrition·2026

Portal vein peak systolic velocity is a useful noninvasive predictor of high-risk varices in biliary atresia.

Journal of pediatric gastroenterology and nutrition·2026

Association of attention-deficit/hyperactivity disorder and autism with inflammatory bowel disease activity.

Journal of pediatric gastroenterology and nutrition·2026

Race and neighborhood factors influence clinical outcomes in children hospitalized with acute pancreatitis.

Journal of pediatric gastroenterology and nutrition·2026

Longitudinal changes in polyunsaturated fatty acids and their metabolites in preterm human milk during early lactation.

Journal of pediatric gastroenterology and nutrition·2026

Prevalence of cytomegalovirus in infants with cholestasis and response to oral antiviral therapy: A prospective cohort study.

Journal of pediatric gastroenterology and nutrition·2026

Detection of Signals for Smell and Taste Disorders Associated with Z-drugs: A Disproportionality Analysis of the FAERS Database.

Oral health & preventive dentistry·2026

Hypocapnia in acute carbon monoxide poisoning: A complex interaction beyond metabolic compensation.

PloS one·2026

Thiol-Ene Click-Derived Porous-Layer Open-Tubular Column for Online Purification and Multiplex LC-MS/MS Analysis of Neurotransmitters.

Analytical chemistry·2026

Characteristic flavors of different processed Yunnan specialty coffee after hot brewing: From sensory attributes to molecular recognition mechanism.

Food chemistry·2026

Formation pathways and thermal-induced transformation of volatile sulfur compounds during black tea processing revealed by integrated GC-IMS and GC×GC-TOFMS.

Food chemistry·2026

MetaVision-SPR: a 96-well chromatic Meta-SPR imaging platform for tumor biomarker quantification and apparent kinetic prescreening.

Biosensors & bioelectronics·2026

Related Experiment Videos

Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion

Related Concept Videos

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

A psychosocial model of a medical problem: Maternal phenylketonuria.

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Efficacy and safety of intrapyloric botulinum toxin injection in pediatrics: Current evidence and future directions.

Portal vein peak systolic velocity is a useful noninvasive predictor of high-risk varices in biliary atresia.

Association of attention-deficit/hyperactivity disorder and autism with inflammatory bowel disease activity.

Race and neighborhood factors influence clinical outcomes in children hospitalized with acute pancreatitis.

Longitudinal changes in polyunsaturated fatty acids and their metabolites in preterm human milk during early lactation.

Prevalence of cytomegalovirus in infants with cholestasis and response to oral antiviral therapy: A prospective cohort study.

Detection of Signals for Smell and Taste Disorders Associated with Z-drugs: A Disproportionality Analysis of the FAERS Database.

Hypocapnia in acute carbon monoxide poisoning: A complex interaction beyond metabolic compensation.

Thiol-Ene Click-Derived Porous-Layer Open-Tubular Column for Online Purification and Multiplex LC-MS/MS Analysis of Neurotransmitters.

Characteristic flavors of different processed Yunnan specialty coffee after hot brewing: From sensory attributes to molecular recognition mechanism.

Formation pathways and thermal-induced transformation of volatile sulfur compounds during black tea processing revealed by integrated GC-IMS and GC×GC-TOFMS.

MetaVision-SPR: a 96-well chromatic Meta-SPR imaging platform for tumor biomarker quantification and apparent kinetic prescreening.

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Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion

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