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One or more keywords matched the following items that are connected to Waisbren, Susan
Item TypeName
Academic Article Maternal non-phenylketonuric mild hyperphenylalaninemia.
Academic Article Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications.
Academic Article Parental tolerance of false-positive newborn screening results.
Academic Article New England Consortium: a model for medical evaluation of expanded newborn screening with tandem mass spectrometry.
Academic Article The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts.
Academic Article Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency.
Academic Article Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Academic Article Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
Academic Article Pregnancy experiences in the woman with mild hyperphenylalaninemia.
Academic Article Expanded newborn screening for biochemical disorders: the effect of a false-positive result.
Academic Article A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening.
Academic Article The adult galactosemic phenotype.
Academic Article Parental Tolerance for False-Positive Newborn Screening Results
Academic Article Maternal histidinaemia: pregnancies and offspring outcomes.
Academic Article New England Maternal PKU Project: prospective study of untreated and treated pregnancies and their outcomes.
Academic Article 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.
Academic Article Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
Academic Article Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
Academic Article The Maternal Phenylketonuria International Study: 1984-2002.
Academic Article Newborn screening for metabolic disorders.
Academic Article Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus.
Academic Article Newborn screening compared to clinical identification of biochemical genetic disorders.
Academic Article Expanded newborn screening for metabolic diosrders: a giant leap forward in preventive medicine or Pandora's box?
Academic Article Impact of false-positive newborn metabolic screening results on early health care utilization.
Academic Article Expanded screening of newborns for genetic disorders.
Academic Article Newborn Screening Follow-up Question and Answer Fact Sheet
Academic Article Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome.
Academic Article Expanded newborn screening: information and resources for the family physician.
Academic Article Newborn Screening and Societal Impact: A Case Study of Maternal PKU
Academic Article Relation of severity of maternal hypothyroidism to cognitive development of offspring.
Academic Article Effects of untreated maternal hyperphenylalaninemia on the fetus: further study of families identified by routine cord blood screening.
Academic Article Neonatal neurological assessment of offspring in maternal phenylketonuria.
Academic Article Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinic.
Academic Article Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
Academic Article Follow-up to Newborn Screening: A Guide for Parents
Concept Infant, Newborn
Concept Infant, Newborn, Diseases
Concept Neonatal Screening
Academic Article Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
Academic Article Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Academic Article Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.
Academic Article Parents are interested in newborn genomic testing during the early postpartum period.
Academic Article Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns.
Academic Article Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Grant Expanded Newborn Screening for Metabolic Disorders
Academic Article Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Academic Article Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Academic Article The BabySeq project: implementing genomic sequencing in newborns.
Academic Article Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.
Academic Article Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.
Academic Article Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.
Academic Article The natural history of classic galactosemia: lessons from the GalNet registry.
Academic Article Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.
Academic Article Developmental Support for Infants With Genetic Disorders.
Academic Article Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.
Academic Article Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness.
Academic Article Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.
Academic Article Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
Search Criteria
  • Newborn
  • screening
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.