Results 11 to 20 of about 1,606,043 (303)

Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2020

International Journal of Neonatal Screening, 2021
Peer review is the driving force of journal development, and reviewers are gatekeepers who ensure that International Journal of Neonatal Screening maintains its standards for the high quality of its published papers [...]
International Journal of Neonatal Screening Editorial Office
doaj   +3 more sources

Neonatal haemoglobinopathy screening in Belgium [PDF]

Journal of Clinical Pathology, 2008
Background: A neonatal haemoglobinopathy screening programme was implemented in Brussels more than a decade ago and in Liège 5 years ago; the programme was adapted to the local situation. Methods: Neonatal screening for ...
Gulbis, Béatrice, Cotton, Frédéric, Ferster, Alina, Ketelslegers, O, Dresse, Marie-Françoise, Ronge, Elisabeth, Minon, J M, Lê, Phu Quoc, Vertongen, Françoise   +8 more
openaire   +5 more sources

Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots [PDF]

International Journal of Neonatal Screening
The International Society for Neonatal Screening (ISNS) has supported the standardization of the measurement of key biochemical markers for the neonatal screening of diseases: thyroid-stimulating hormone (TSH) for congenital hypothyroidism, phenylalanine
Peter C. J. I. Schielen, Dianne Webster, J. Gerard Loeber, James R. Bonham   +3 more
doaj   +2 more sources

Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2021

International Journal of Neonatal Screening, 2022
Rigorous peer-reviews are the basis of high-quality academic publishing [...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Acknowledgment to the Reviewers of International Journal of Neonatal Screening in 2022

International Journal of Neonatal Screening, 2023
High-quality academic publishing is built on rigorous peer review [...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

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

, 2021
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadNeonatal screening (NBS) was initiated in Europe during the 1960s with the ...
Kocova, Mirjana, Schielen, Peter C J I, Songailiené, Jurgita, Mitkin, Vyacheslav, Ildiko Szatmari, Platis, Dimitris, Franzson, Leifur, François Boemer, Hougaard, David, Milenkovic, Tatjana, Songailienė, Jurgita,, Knapkova, Maria, Zeyda, Maximilian,, Zetterström, Rolf H., Bonham, James R, Tezel, Basak,, Groselj, Urh,, David Cheillan, Maximilian Zeyda, Szatmari, Ildiko, Brincat, Ian, Kurkijärvi, Riikka,, Almashanu, Shlomo, Ceglarek, Uta, Toromanovic, Alma, Raquel Yahyaoui, Hougaard, David,, Zeyda, Maximilian, Moldovanu, Florentina,, Toromanovic, Alma,, David Hougaard, Peter C.J.I. Schielen, Kremezna, Anastasiia,, Tezel, Basak, Parsla Vevere, Oltarzewski, Mariusz,, Ian Brincat, Kremezna, Anastasiia, Natalia Usurelu, Nazi Tabatadze, Pettersen, Rolf D., Danijela Ramadza, la Marca, Giancarlo, J. Gerard Loeber, Salimbayeva, Damilya,, Mitkin, Vyacheslav,, Shlomo Almashanu, Dimitrov, Dobry, Markhabo Shamsiddinova, Boemer, François, Dimitrov, Dobry,, Loeber, J. Gerard,, Vogazianos, Marios,, Ruth Mikelsaar, Vevere, Parsla, Milenkovic, Tatjana,, Maria Knapkova, Damilya Salimbayeva, Dekkers, Eugenie, Fingerhut, Ralph,, Patricia Borde, La-Marca, Giancarlo, Dekkers, Eugenie,, Samardzic, Mira, Mariusz Oltarzewski, La Marca, Giancarlo,, Urh Groselj, Knapkova, Maria,, Tovmasyan, Irina,, Tatjana Milenkovic, Uta Ceglarek, Jurgita Songailiené, Yahyaoui, Raquel,, Bonham, James R.,, Ramadza, Danijela,, Schielen, Peter C. J. I.,, Usurelu, Natalia, Kozich, Viktor, James R. Bonham, Mira Samardzic, Vilarinho, Laura, Riikka Kurkijärvi, Schielen, Peter C. J. I., Mirjana Kocova, Leifur Franzson, Ramadza, Danijela, Vjosa Kotori, Basak Tezel, Vilarinho, Laura,, Loeber, J Gerard, Vevere, Parsla,, Bonham, James R., Anastasiia Kremezna, Cheillan, David,, Mikelsaar, Ruth,, Kotori, Vjosa, O'Grady, Loretta, Moldovanu, Florentina, Alma Toromanovic, Irina Tovmasyan, Vogazianos, Marios, Florentina Moldovanu, Kurkijärvi, Riikka, Loeber, J. Gerard, Dobry Dimitrov, Rolf D. Pettersen, Borde, Patricia, Vyacheslav Mitkin, Tovmasyan, Irina, Groselj, Urh, Shamsiddinova, Markhabo, Kocova, Mirjana,, Pettersen, Rolf D.,, O'Grady, Loretta,, Boemer, François,, Platis, Dimitris,, Almashanu, Shlomo,, Ceglarek, Uta,, Dimitris Platis, Franzson, Leifur,, Giancarlo La Marca, Zetterström, Rolf H, Ralph Fingerhut, Laura Vilarinho, Cheillan, David, Zetterström, Rolf H.,, Brincat, Ian,, Rolf H. Zetterström, Salimbayeva, Damilya, Shamsiddinova, Markhabo,, Pettersen, Rolf D, Loretta O\u27Grady, Marios Vogazianos, Usurelu, Natalia,, Kozich, Viktor,, Eugenie Dekkers, Mikelsaar, Ruth, Szatmari, Ildiko,, Viktor Kozich, Oltarzewski, Mariusz, Kotori, Vjosa,, Fingerhut, Ralph, Yahyaoui, Raquel, Borde, Patricia,, Samardzic, Mira,, Tabatadze, Nazi,, Tabatadze, Nazi, Groselj, U., Cheillan David, Fingerhut, R., Bonham James R., Zetterstroem, RH, Vilarinho Laura, Songailiené Jurgita, Toromanovic, A., Franzson, L., Pettersen Rolf D., Zetterström Rolf H., Boemer, F, Vilarinho, L., Vevere, P., Kremezna Anastasiia, Dimitrov Dobry, Moldovanu, F., O’Grady Loretta, Szatmari Ildiko, Hougaard David, Tovmasyan, I., Almashanu, S, Kurkijärvi Riikka, Ramadza, D., Boemer, F., Platis, D, Milenkovic, T., Loretta O'Grady, Samardzic, M., Usurelu Natalia, Brincat, I., Almashanu Shlomo, Kocova Mirjana, Ceglarek, U., Vogazianos Marios, Dekkers Eugenie, Borde, P, Kremezna, A., Yahyaoui Raquel, Vogazianos, M., Zeyda, M., Brincat Ian, O'Grady, L., Hougaard, D., La Marca, G., Mikelsaar, R., Kozich Viktor, Schielen, Pcji, Mikelsaar Ruth, Salimbayeva Damilya, Salimbayeva, D., Kotori, V., Oltarzewski Mariusz, Shamsiddinova Markhabo, Tabatadze Nazi, Pettersen, R. D., Kotori Vjosa, Platis, D., Zeyda Maximilian, Mitkin, V., Shamsiddinova, M., Ceglarek Uta, Borde, P., Knapková, M., Vevere Parsla, Yahyaoui, R., Szatmari, I., Loeber, J. G., Tezel Basak, LoeberJ. Gerard, Zetterström, R. H., Tezel, B., Samardzic Mira, Loeber, JG, Almashanu, S., Cheillan, D, Franzson Leifur, Borde Patricia, Dekkers, E, Mitkin Vyacheslav, Milenkovic Tatjana, Usurelu, N., Songailiene, J., Dimitrov, D., Moldovanu Florentina, Tovmasyan Irina, Oltarzewski, M., Toromanovic Alma, Brincat, I, Dekkers, E., Kurkijärvi, R., La Marca Giancarlo, Groselj Urh, Cheillan, D., Tabatadze, N., Ramadza Danijela, Kocova, M., Kozich, V., Knapkova Maria, Platis Dimitris, Boemer François, Bonham, JR, Fingerhut Ralph, Bonham, J. R., Schielen Peter C.J.I.   +251 more
core   +4 more sources

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

BMC Medical Genetics, 2020
Background Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. Case presentation In this
Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu   +7 more
doaj   +1 more source

Increased detection of primary carnitine deficiency through second-tier newborn genetic screening

Orphanet Journal of Rare Diseases, 2021
Background Newborn screening for primary carnitine deficiency (NBS) is commonly implemented worldwide; however, it has poor sensitivity. This study aimed to evaluate the feasibility of improving screening by including a second-tier genetic assay. Results
Yiming Lin, Weifeng Zhang, Chenggang Huang, Chunmei Lin, Weihua Lin, Weilin Peng, Qingliu Fu, Dongmei Chen   +7 more
doaj   +1 more source

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population

Frontiers in Genetics, 2022
Neonatal inherited metabolic disorders (IMDs) are closely associated with early neonatal death and abnormal growth and development. Increasing attention has been paid to IMDs because of their high incidence and diversity.
Xia Li, Jun He, Ling He, Yudong Zeng, Xuzhen Huang, Yechao Luo, Yujiao Li   +6 more
doaj   +1 more source

Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition [PDF]

, 2023
Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison.
European CF Society Neonatal Screening Working Group (ECFS NSWG), Longziekten patientenzorg, Child Health   +2 more
core   +5 more sources