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Volume 6; Issue 3
Main
International Journal of Neonatal Screening
Volume 6; Issue 3
International Journal of Neonatal Screening
Volume 6; Issue 3
1
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Tangeraas, Trine
,
Sæves, Ingjerd
,
Klingenberg, Claus
,
Jørgensen, Jens
,
Kristensen, Erle
,
Gunnarsdottir, Gunnþórunn
,
Hansen, Eirik Vangsøy
,
Strand, Janne
,
Lundman, Emma
,
Ferdinandusse, Sacha
,
Salv
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.03 MB
Your tags:
2020
2
Why Do We Screen Newborn Infants for Cystic Fibrosis?
Barben, Jürg
,
Southern, Kevin W.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 147 KB
Your tags:
2020
3
Referral and Lost to System Rates of Two Newborn Hearing Screening Programs in Saudi Arabia
Alanazi, Ahmad A.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 657 KB
Your tags:
2020
4
Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices
Knight, Vijaya
,
Heimall, Jennifer R.
,
Wright, Nicola
,
Dutmer, Cullen M.
,
Boyce, Thomas G.
,
Torgerson, Troy R.
,
Abraham, Roshini S.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 2.37 MB
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2020
5
Pulse Oximetry and Congenital Heart Disease Screening: Results of the First Pilot Study in Morocco
El Idrissi Slitine, Nadia
,
Bennaoui, Fatiha
,
Sable, Craig A.
,
Martin, Gerard R.
,
Hom, Lisa A.
,
Fadel, Amal
,
Moussaoui, Soufiane
,
Inajjarne, Nadir
,
Boumzebra, Drissi
,
Mouaffak, Youssef
,
Younous, Said
,
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 339 KB
Your tags:
2020
6
The Changing Face of Cystic Fibrosis and Its Implications for Screening
Naehrlich, Lutz
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 187 KB
Your tags:
2020
7
Establishing Pompe Disease Newborn Screening: The Role of Industry
Keutzer, Joan M.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 201 KB
Your tags:
2020
8
Newborn Screening for Cystic Fibrosis: Over the Hump, Still Need to Fine-Tune It
Castellani, Carlo
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 165 KB
Your tags:
2020
9
Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency
Messina, MariaAnna
,
Arena, Alessia
,
Fiumara, Agata
,
Iacobacci, Riccardo
,
Meli, Concetta
,
Raudino, Federica
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 236 KB
Your tags:
2020
10
The Early History of PKU
Woolf, Louis I.
,
Adams, John
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 528 KB
Your tags:
2020
11
Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
Yamada, Kenji
,
Yokoyama, Kazunori
,
Aoki, Kikumaro
,
Taketani, Takeshi
,
Yamaguchi, Seiji
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 208 KB
Your tags:
2020
12
Dr. Louis Isaac Woolf: At the Forefront of Newborn Screening and the Diet to Treat PhenylketonuriaâBiography to Mark His 100th Birthday â
Alonso-Fernández, José Ramón
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.26 MB
Your tags:
2020
13
The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California
Tang, Hao
,
Matteson, Jamie
,
Rinaldo, Piero
,
Tortorelli, Silvia
,
Currier, Robert
,
Sciortino, Stanley
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 443 KB
Your tags:
2020
14
Evaluation of Multiple Methods for Quantification of Glycosaminoaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I
Herbst, Zackary M.
,
Urdaneta, Leslie
,
Klein, Terri
,
Fuller, Maria
,
Gelb, Michael H.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.99 MB
Your tags:
2020
15
The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease
Martin, Monica M.
,
Wilson, Ryan
,
Caggana, Michele
,
Orsini, Joseph J.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 180 KB
Your tags:
2020
16
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy
Held, Patrice K.
,
Bird, Ian M.
,
Heather, Natasha L.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.70 MB
Your tags:
2020
17
The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients
Lajic, Svetlana
,
Karlsson, Leif
,
Zetterström, Rolf H.
,
Falhammar, Henrik
,
Nordenström, Anna
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 365 KB
Your tags:
2020
18
CAH Newborn Screening in India: Challenges and Opportunities
Dabas, Aashima
,
Bothra, Meenakshi
,
Kapoor, Seema
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 219 KB
Your tags:
2020
19
Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Zetterström, Rolf H.
,
Karlsson, Leif
,
Falhammar, Henrik
,
Lajic, Svetlana
,
Nordenström, Anna
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 675 KB
Your tags:
2020
20
Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme
Lai, Fei
,
Srinivasan, Shubha
,
Wiley, Veronica
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 592 KB
Your tags:
2020
21
Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
Edelman, Sari
,
Desai, Hiral
,
Pigg, Trey
,
Yusuf, Careema
,
Ojodu, Jelili
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 2.46 MB
Your tags:
2020
22
Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries
Blackwell, Karlita
,
Gelb, Michael H.
,
Grantham, Anna
,
Spencer, Natasha
,
Webb, Christin
,
West, Tara
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 640 KB
Your tags:
2020
23
Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI
Ames, Elizabeth G.
,
Fisher, Rachel
,
Kleyn, Mary
,
Ahmad, Ayesha
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 1.11 MB
Your tags:
2020
24
Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials
Pickens, Charles Austin
,
Sternberg, Maya
,
Seeterlin, Mary
,
De Jesús, VÃctor R.
,
Morrissey, Mark
,
Manning, Adrienne
,
Bhakta, Sonal
,
Held, Patrice K.
,
Mei, Joanne
,
Cuthbert, Carla
,
Petritis, Konstanti
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 2.33 MB
Your tags:
2020
25
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
Burton, Barbara K.
,
Hickey, Rachel
,
Hitchins, Lauren
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 202 KB
Your tags:
2020
26
Newborn Critical Congenital Heart Disease Screening Using Pulse Oximetry: Value and Unique Challenges in Developing Regions
Hom, Lisa A.
,
Martin, Gerard R.
Journal:
International Journal of Neonatal Screening
Year:
2020
File:
PDF, 465 KB
Your tags:
2020
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