Results 11 to 20 of about 148,879 (306)

Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2018 [PDF]

International Journal of Neonatal Screening, 2019
Rigorous peer-review is the corner-stone of high-quality academic publishing[...]
International Journal of Neonatal Screening Editorial Office
doaj   +2 more sources

Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2019 [PDF]

International Journal of Neonatal Screening, 2020
International Journal of Neonatal Screening Editorial Office
doaj   +2 more sources

Twenty Years of Neonatal Screening for Sickle Cell Disease in Brazil: The Challenges of a Continental Country with High Genetic Heterogeneity [PDF]

, 2021
Sickle cell disease (SCD) is the most common inherited hematological disease worldwide. The benefits of diagnosis and early intervention have led to the wide dissemination of public health programs worldwide.
Castro, Simone Martins De, Santos, Helena Pimentel Dos, Domingos, Claudia Regina Bonini [UNESP]   +2 more
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Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience [PDF]

, 2022
Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in December 2017. Documentation pertaining to the application to add SCID to the panel and screening results over the first three ...
Pippa Grainger, Detlef Knoll, Grainger, Pippa, de Hora, Mark, Shannon Brothers, Dianne Webster, Webster, Dianne, Mark de Hora, Heather, Natasha, Knoll, Detlef, Brothers, Shannon, Natasha Heather   +11 more
core   +1 more source

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 [PDF]

, 2022
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass ...
Borde Patricia, Cheillan David, Kremezna Anastasiia, Bonham James R., Dimitrov Dobry, La Marca Giancarlo, Groselj Urh, Mitkin Vyacheslav, Brincat Ian, Vilarinho Laura, Milenkovic Tatjana, Ramadza Danijela, Usurelu Natalia, Songailiené Jurgita, Tabatadze Nazi, O’Grady Loretta, Almashanu Shlomo, Kotori Vjosa, Szatmari Ildiko, Hougaard David, Zeyda Maximilian, Kozich Viktor, Moldovanu Florentina, Kocova Mirjana, Knapkova Maria, Ceglarek Uta, Mikelsaar Ruth, Pettersen Rolf D., Salimbayeva Damilya, Platis Dimitris, Boemer François, Zetterström Rolf H., Tezel Basak, Vogazianos Marios, LoeberJ. Gerard, Dekkers Eugenie, Vevere Parsla, Kurkijärvi Riikka, Tovmasyan Irina, Fingerhut Ralph, Oltarzewski Mariusz, Samardzic Mira, Shamsiddinova Markhabo, Toromanovic Alma, Yahyaoui Raquel, Franzson Leifur, Schielen Peter C.J.I.   +46 more
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Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

BMC Pediatrics, 2020
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation.
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu   +6 more
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Delivery Modality Affect Neonatal Levels of Inflammation, Stress, and Growth Factors

Frontiers in Pediatrics, 2021
Introduction: As part of the study CODIBINE, Correlations and Diagnoses for Biomarkers in New-borns, the main objective of the study was to explore neonatal inflammation, stress, neurodevelopment, and growth factors after in-labor and pre-labor cesarean ...
Pia Kiilerich, Rikke Cortes, Ulrik Lausten-Thomsen, Nis Borbye-Lorenzen, Solveig Holmgaard, Kristin Skogstrand   +5 more
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Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Orphanet Journal of Rare Diseases, 2021
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited.
Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin, Weifeng Zhang   +6 more
doaj   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Scientific Reports, 2021
Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China.
Ruixue Zhang, Rong Qiang, Chengrong Song, Xiaoping Ma, Yan Zhang, Fengxia Li, Rui Wang, Wenwen Yu, Mei Feng, Lihui Yang, Xiaobin Wang, Na Cai   +11 more
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Implementation of SCID Screening in Denmark

International Journal of Neonatal Screening, 2021
Screening for SCID was added to the Danish Neonatal Screening Program in February 2020. The screening uses a RealtimePCR kit and we here present the results and experiences with the validation of the kit and the first 10 months of screening.
Marie Bækvad-Hansen, Dea Adamsen, Jonas Bybjerg-Grauholm, David Michael Hougaard   +3 more
doaj   +1 more source