2003
Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress
Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress. JAMA 2003, 290: 2564-2572. PMID: 14625333, DOI: 10.1001/jama.290.19.2564.Peer-Reviewed Original ResearchMeSH KeywordsAdultAttitude to HealthChildChild DevelopmentChild, PreschoolDevelopmental DisabilitiesFalse Positive ReactionsFemaleHealth StatusHospitalizationHumansInfantInfant, NewbornIntellectual DisabilityMaleMass SpectrometryMetabolism, Inborn ErrorsNeonatal ScreeningParentsProspective StudiesStress, PsychologicalConceptsFalse-positive screening resultsBiochemical genetic disordersParental Stress IndexNormal resultsNewborn screeningMothers of childrenFalse-positive resultsScreening resultsGenetic disordersNormal screening resultsMonths of lifeFalse-positive groupImproved health outcomesExpanded Newborn ScreeningStress indexInception cohortScreened groupProspective studyChild healthClinical identificationHealth outcomesLimited screeningParent-child dysfunctionDisordersMental retardation
2002
Tetrahydrobiopterin and Dietary Restriction in Mild Phenylketonuria
Seashore MR. Tetrahydrobiopterin and Dietary Restriction in Mild Phenylketonuria. New England Journal Of Medicine 2002, 347: 2094-2095. PMID: 12501220, DOI: 10.1056/nejmp020147.Peer-Reviewed Original ResearchNewborn screening compared to clinical identification of biochemical genetic disorders
Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R, Ingham CL, Korson M, Msall M, Pueschel S, Seashore M, Shih E, Levy HL. Newborn screening compared to clinical identification of biochemical genetic disorders. Journal Of Inherited Metabolic Disease 2002, 25: 599-600. PMID: 12638945, DOI: 10.1023/a:1022003726224.Peer-Reviewed Original Research
2001
New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry
Albers S, Waisbren SE, Ampola MG, Brewster TG, Burke LW, Demmer LA, Filiano J, Greenstein R, Ingham CL, Korson MS, Marsden D, Schwartz RC, Seashore MR, Shih VE, Levy HL. New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry. Journal Of Inherited Metabolic Disease 2001, 24: 303-304. PMID: 11405349, DOI: 10.1023/a:1010391623104.Peer-Reviewed Original Research