Works matching IS 2409515X AND DT 2021 AND VI 7 AND IP 3
Results: 29
The Editor's Choice for Issue 2, Volume 7.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030061
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Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030060
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First Year of TREC-Based National SCID Screening in Sweden.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030059
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Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030058
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Advances in the Diagnosis and Treatment of Krabbe Disease.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030057
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Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030056
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- Article
Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030055
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Implementation of SCID Screening in Denmark.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030054
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Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030053
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Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030052
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Newborn Screening for Congenital Hypothyroidism-Clinical Evaluation and Comparison of Two Different Test Kits for the Determination of TSH in Dried Blood Samples on Two Different Platforms.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030051
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Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030050
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Establishing a National Community of Practice for Newborn Screening Follow-Up.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030049
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Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030048
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Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030047
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Newborn Screening for SCID: Experience in Spain (Catalonia).
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030046
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Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030045
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Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030044
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Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030043
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Neonatal Screening for SCID: The French Experience.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030042
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The Value of Cognitive Pretesting: Improving Validity and Revealing Blind Spots through the Development of a Newborn Screening Parent Experiences Survey.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030041
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Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030040
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Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030039
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Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030038
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The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030037
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Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030036
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Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030035
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Newborn Screening for Congenital Hypothyroidism in Japan.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030034
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Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018-2021.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030033
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