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Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature
Published 2023-02-01Subjects: “…expanded newborn screening…”
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Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1
Published 2024-08-01Subjects: Get full text
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3
Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry
Published 2022-01-01Subjects: “…expanded newborn screening…”
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4
A New Approach for Second-Tier Analysis of Methylmalonic Acid in Dried Blood Spots Using Liquid Chromatography Tandem Mass Spectrometry
Published 2021-02-01Subjects: Get full text
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5
Healthcare professionals’ and parents’ experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot
Published 2017-05-01Subjects: “…Expanded newborn screening…”
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Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Populati...
Published 2019-10-01Subjects: “…expanded newborn screening…”
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Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis
Published 2022-11-01Subjects: Get full text
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Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature
Published 2020-11-01Subjects: Get full text
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10
Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report
Published 2018-01-01Subjects: Get full text
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Evaluation of diagnostic accuracy of biomarkers of inborn errors of metabolism in sick neonates: A prospective observational study
Published 2021-04-01Subjects: Get full text
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Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy
Published 2019-06-01Subjects: “…lysosomal expanded newborn screening…”
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