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International Journal of Neonatal Screening
|
November 6, 2020
Zoltan Lukacs Passed Away
Joseph Orsini, Michael Gelb, Peter C J I Schielen
Molecular Genetics and Metabolism
|
December 7, 2024
High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis
Zackary M Herbst, Francyne Kubaski, Laura Pollard, et al.
International Journal of Neonatal Screening
|
May 7, 2020
Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease
Zackary Herbst, Coleman T Turgeon, Chad Biski, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2026
Multi-modal recruitment efficiency in ScreenPlus, a large-scale consented pilot NBS program
Megan Clarke, Katrina Paleologos, Nicole R Kelly, et al.
International Journal of Neonatal Screening
|
April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I
Zinandré Stander, Amy L White, Matthew Lynch, et al.
Molecular Genetics and Metabolism
|
May 27, 2025
Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots
Austin Shaff, Khaja Basheeruddin, Soumeya Bekri, et al.
International Journal of Neonatal Screening
|
March 28, 2023
Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I
M Christine Dorley, George J Dizikes, Charles Austin Pickens, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2026
Disease Outcomes in Boys with <i>ABCD1</i> Variants Identified by Newborn Screening for X-ALD
Cecilie S Videbaek, Danielle Hj Kim, Hannah S Hart, et al.
International Journal of Neonatal Screening
|
December 22, 2022
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories
Michael H Gelb, Khaja Basheeruddin, Alberto Burlina, et al.
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of 1
Search research articles
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Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
International Journal of Neonatal Screening
|
November 6, 2020
Zoltan Lukacs Passed Away
Joseph Orsini, Michael Gelb, Peter C J I Schielen
Molecular Genetics and Metabolism
|
December 7, 2024
High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis
Zackary M Herbst, Francyne Kubaski, Laura Pollard, et al.
International Journal of Neonatal Screening
|
May 7, 2020
Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease
Zackary Herbst, Coleman T Turgeon, Chad Biski, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2026
Multi-modal recruitment efficiency in ScreenPlus, a large-scale consented pilot NBS program
Megan Clarke, Katrina Paleologos, Nicole R Kelly, et al.
International Journal of Neonatal Screening
|
April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I
Zinandré Stander, Amy L White, Matthew Lynch, et al.
Molecular Genetics and Metabolism
|
May 27, 2025
Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots
Austin Shaff, Khaja Basheeruddin, Soumeya Bekri, et al.
International Journal of Neonatal Screening
|
March 28, 2023
Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I
M Christine Dorley, George J Dizikes, Charles Austin Pickens, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2026
Disease Outcomes in Boys with <i>ABCD1</i> Variants Identified by Newborn Screening for X-ALD
Cecilie S Videbaek, Danielle Hj Kim, Hannah S Hart, et al.
International Journal of Neonatal Screening
|
December 22, 2022
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories
Michael H Gelb, Khaja Basheeruddin, Alberto Burlina, et al.
Page
of 1