Newborn Screening for Krabbe Disease: the New York State Model

Patricia K. Duffner, Michele Caggana, Joseph J. Orsini, +25

Pediatric Neurology

Early DiagnosisNeonatologyNewborn ScreeningDiagnosisPediatrics +4

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Melissa Wasserstein, Michele Caggana, Sean M. Bailey, +13

Genetics in Medicine

Lysosomal Storage DiseasesEarly DiagnosisNeonatologyNewborn ScreeningClinical Epidemiology +7

Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders

Víctor R. De Jesús, X. Kate Zhang, Joan Keutzer, +6

Clinical Chemistry

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Beth Vogel, Sue Bradley, Darius J. Adams, +15

Molecular Genetics and Metabolism

Early DiagnosisNew York StateNeonatologyDiagnostic ProtocolPediatrics +6

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Joseph J. Orsini, Denise M. Kay, Carlos A. Saavedra‐Matiz, +20

Genetics in Medicine

Early DiagnosisNew York StateNewborn ScreeningNeonatologyClinical Epidemiology +7

Development of a bile acid–based newborn screen for Niemann-Pick disease type C

Xuntian Jiang, Rohini Sidhu, Laurel Mydock‐McGrane, +17

Science Translational Medicine

NeonatologyGastroenterologyPathologyNpc SubjectsHyperlipidemia +21

Newborn Screening for X-Linked Adrenoleukodystrophy

Ann B. Moser, Richard O. Jones, Walter C. Hubbard, +5

International Journal of Neonatal Screening

Reproductive SciencesX-linked AdrenoleukodystrophyNeonatologyFetal MedicineDiagnosis +18

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

Melissa Wasserstein, Mary R. Andriola, Georgianne L. Arnold, +19

Genetics in Medicine

Early DiagnosisNew York StateNewborn ScreeningNeonatologyClinical Epidemiology +7

Microwave assisted digestion of atmospheric aerosol samples followed by inductively coupled plasma mass spectrometry determination of trace elements

K. Swami, C. D. Judd, Joseph J. Orsini, +2

Fresenius Journal of Analytical Chemistry

Air SamplingEngineeringEnvironmental EngineeringAtmospheric ScienceAerosol Sampling +7

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy

Irene C. Huffnagel, Malu-Clair van de Beek, Amanda Showers, +10

Molecular Genetics and Metabolism

Adrenal GlandDried Blood SpotsMedicinePhysiologyNeurology +5