Newborn screening by tandem mass spectrometry: a new era

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

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

Maternal histidinaemia: pregnancies and offspring outcomes.

Journal of inherited metabolic disease·2004

Quantification of Proinsulin in Human Plasma by Proteolysis-Aided Peptide Immunoaffinity-Liquid Chromatography-Tandem Mass Spectrometry.

Clinical chemistry·2026

Extending Quality Control Procedures for Multiplexed Clinical Assays.

Clinical chemistry·2026

Distinguishing Acute Myocardial Infarction from Other Forms of Cardiac Injury with the Cardiac Troponin Long-T ITC Complex and High-Sensitivity Troponin I and T in Patients with Suspected Acute Coronary Syndrome: MERITnI Substudy.

Clinical chemistry·2026

Biological Variation of Adrenal-Related Endocrine Biomarkers Used for Investigation of Secondary Hypertension.

Clinical chemistry·2026

Enriching Microbial Cell-Free DNA in Clinical Metagenomics Using Epigenetic Filters.

Clinical chemistry·2026

APOB to Estimated APOB Ratio for Screening for the APOE2 Genotype.

Clinical chemistry·2026

Clinical characteristics and treatment strategies of brainstem lesion in children with neurofibromatosis type 1.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2026

Risk assessment of early-onset sepsis in extremely preterm infants: implications for antibiotic stewardship.

Journal of perinatology : official journal of the California Perinatal Association·2026

Diaphragm ultrasound and lung aeration in small-for-gestational-age versus appropriate-for-gestational-age newborns: a cross-sectional study.

Journal of perinatology : official journal of the California Perinatal Association·2026

Variants of varying clinical consequence (VVCCs) are associated with differing penetrance and expressivity in children with CRMS/CFSPID.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2026

Management and outcomes of paediatric non-parasitic splenic cysts: A multi-centre retrospective cohort study and systematic review.

Journal of pediatric surgery·2026

Tracheopexy for Severe Tracheobronchomalacia in Children with Bronchopulmonary Dysplasia: A Two-Center Study of Patient Characteristics and Outcomes.

Journal of pediatric surgery·2026

Related Experiment Videos

Newborn screening by tandem mass spectrometry: a new era

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.

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.

Maternal histidinaemia: pregnancies and offspring outcomes.

Quantification of Proinsulin in Human Plasma by Proteolysis-Aided Peptide Immunoaffinity-Liquid Chromatography-Tandem Mass Spectrometry.

Extending Quality Control Procedures for Multiplexed Clinical Assays.

Distinguishing Acute Myocardial Infarction from Other Forms of Cardiac Injury with the Cardiac Troponin Long-T ITC Complex and High-Sensitivity Troponin I and T in Patients with Suspected Acute Coronary Syndrome: MERITnI Substudy.

Biological Variation of Adrenal-Related Endocrine Biomarkers Used for Investigation of Secondary Hypertension.

Enriching Microbial Cell-Free DNA in Clinical Metagenomics Using Epigenetic Filters.

APOB to Estimated APOB Ratio for Screening for the APOE2 Genotype.

Clinical characteristics and treatment strategies of brainstem lesion in children with neurofibromatosis type 1.

Risk assessment of early-onset sepsis in extremely preterm infants: implications for antibiotic stewardship.

Diaphragm ultrasound and lung aeration in small-for-gestational-age versus appropriate-for-gestational-age newborns: a cross-sectional study.

Variants of varying clinical consequence (VVCCs) are associated with differing penetrance and expressivity in children with CRMS/CFSPID.

Management and outcomes of paediatric non-parasitic splenic cysts: A multi-centre retrospective cohort study and systematic review.

Tracheopexy for Severe Tracheobronchomalacia in Children with Bronchopulmonary Dysplasia: A Two-Center Study of Patient Characteristics and Outcomes.

Related Experiment Videos

Newborn screening by tandem mass spectrometry: a new era

Related Concept Videos

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