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Volume 6; Issue 2
Main
International Journal of Neonatal Screening
Volume 6; Issue 2
International Journal of Neonatal Screening
Volume 6; Issue 2
1
Processing Newborn Bloodspot Screening Results for CF
Barben, Jürg
,
Chudleigh, Jane
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 833 KB
Your tags:
2020
2
The Timely Needs for Infantile Onset Pompe Disease Newborn ScreeningâPractice in Taiwan
Chiang, Shu-Chuan
,
Chien, Yin-Hsiu
,
Chang, Kai-Ling
,
Lee, Ni-Chung
,
Hwu, Wuh-Liang
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 936 KB
Your tags:
2020
3
Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care
Sherman, Victoria
,
Kondratyeva, Elena
,
Kashirskaya, Nataliya
,
Voronkova, Anna
,
Nikonova, Victoria
,
Zhekaite, Elena
,
Kutsev, Sergey
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 338 KB
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2020
4
Universal Implementation of Newborn Screening in India
Mookken, Thomas
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 209 KB
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2020
5
Psychological Impact of NBS for CF
Chudleigh, Jane
,
Chinnery, Holly
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 221 KB
Your tags:
2020
6
Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease
Herbst, Zackary
,
Turgeon, Coleman T.
,
Biski, Chad
,
Khaledi, Hamid
,
Shoemaker, Nancy B.
,
DeArmond, Patrick D.
,
Smith, Sara
,
Orsini, Joseph
,
Matern, Dietrich
,
Gelb, Michael H.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 460 KB
Your tags:
2020
7
Newborn Screening for Pompe Disease
Sawada, Takaaki
,
Kido, Jun
,
Nakamura, Kimitoshi
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 711 KB
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2020
8
Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
Smith, Laurie D.
,
Bainbridge, Matthew N.
,
Parad, Richard B.
,
Bhattacharjee, Arindam
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 980 KB
Your tags:
2020
9
The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism
Gavrilov, Dimitar K.
,
Piazza, Amy L.
,
Pino, Gisele
,
Turgeon, Coleman
,
Matern, Dietrich
,
Oglesbee, Devin
,
Raymond, Kimiyo
,
Tortorelli, Silvia
,
Rinaldo, Piero
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.27 MB
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2020
10
Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders
Moat, Stuart J.
,
George, Roanna S.
,
Carling, Rachel S.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.23 MB
Your tags:
2020
11
Pancreatitis-Associated Protein in Neonatal Screening for Cystic Fibrosis: Strengths and Weaknesses
Sommerburg, Olaf
,
Hammermann, Jutta
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.21 MB
Your tags:
2020
12
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening
Priestley, Jessica R. C.
,
Alharbi, Hana
,
Callahan, Katharine Press
,
Guzman, Herodes
,
Payan-Walters, Irma
,
Smith, Ligia
,
Ficicioglu, Can
,
Ganetzky, Rebecca D.
,
Ahrens-Nicklas, Rebecca C.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 819 KB
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2020
13
Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States
Speiser, Phyllis
,
Chawla, Reeti
,
Chen, Ming
,
Diaz-Thomas, Alicia
,
Finlayson, Courtney
,
Rutter, Meilan
,
Sandberg, David
,
Shimy, Kim
,
Talib, Rashida
,
Cerise, Jane
,
Vilain, Eric
,
Délot, Emmanuèle
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 631 KB
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2020
14
Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences
Kellar-Guenther, Yvonne
,
McKasson, Sarah
,
Hale, Kshea
,
Singh, Sikha
,
Sontag, Marci K.
,
Ojodu, Jelili
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 699 KB
Your tags:
2020
15
Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing
Hendrix, Miyono M.
,
Cuthbert, Carla D.
,
Cordovado, Suzanne K.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 3.83 MB
Your tags:
2020
16
National Program for External Quality Assessment of Chinese Newborn Screening Laboratories
Du, Yuxuan
,
Wang, Wei
,
Liu, Jiali
,
Zhang, Zhixin
,
Zhao, Zhen
,
He, Falin
,
Yuan, Shuai
,
Wang, Zhiguo
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.66 MB
Your tags:
2020
17
Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
Wijaya, Yogik Onky Silvana
,
Purevsuren, Jamiyan
,
Harahap, Nur Imma Fatimah
,
Niba, Emma Tabe Eko
,
Bouike, Yoshihiro
,
Nurputra, Dian Kesumapramudya
,
Rochmah, Mawaddah Ar
,
Thursina, Cempaka
,
Hapsara, Sun
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.60 MB
Your tags:
2020
18
Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis
Armstrong, Rachael E.
,
Frith, Lucy
,
Ulph, Fiona M.
,
Southern, Kevin W.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.32 MB
Your tags:
2020
19
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing
Adhikari, Aashish N.
,
Currier, Robert J.
,
Tang, Hao
,
Turgeon, Coleman T.
,
Nussbaum, Robert L.
,
Srinivasan, Rajgopal
,
Sunderam, Uma
,
Kwok, Pui-Yan
,
Brenner, Steven E.
,
Gavrilov, Dimitar
,
Puck, Jennifer
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 220 KB
Your tags:
2020
20
Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data
Sörensen, Lene
,
von Döbeln, Ulrika
,
à hlman, Henrik
,
Ohlsson, Annika
,
Engvall, Martin
,
Naess, Karin
,
Backman-Johansson, Carolina
,
Nordqvist, Yvonne
,
Wedell, Anna
,
Zetterström, Rolf H.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.08 MB
Your tags:
2020
21
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders
Sanders, Karen A.
,
Gavrilov, Dimitar K.
,
Oglesbee, Devin
,
Raymond, Kimiyo M.
,
Tortorelli, Silvia
,
Hopwood, John J.
,
Lorey, Fred
,
Majumdar, Ramanath
,
Kroll, Charles A.
,
McDonald, Amber M.
,
Lacey, Jean
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 880 KB
Your tags:
2020
22
A Visit with Dr. Louis Woolf, Recognizing His 100th Birthday and His Contributions to the Diagnosis and Treatment of Phenylketonuria
Howell, R. Rodney
,
Sinclair, Graham
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 940 KB
Your tags:
2020
23
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia
Sinclair, Graham
,
McMahon, Vanessa
,
Schellenberg, Amy
,
Nelson, Tanya N.
,
Chilvers, Mark
,
Vallance, Hilary
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 514 KB
Your tags:
2020
24
It All Depends What You CountâThe Importance of Definitions in Evaluation of CF Screening Performance
Heather, Natasha
,
Webster, Dianne
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 184 KB
Your tags:
2020
25
Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation
Hale, Kshea
,
Kellar-Guenther, Yvonne
,
McKasson, Sarah
,
Singh, Sikha
,
Ojodu, Jelili
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 296 KB
Your tags:
2020
26
Considerations for Newborn Screening for Critical Congenital Heart Disease in Low- and Middle-Income Countries
Zheleva, Bistra
,
Nair, Sreehari M.
,
Dobrzycka, Adriana
,
Saarinen, Annamarie
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 802 KB
Your tags:
2020
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