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Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide
Kuypers, Allysa M., Bouva, Marelle J., Loeber, J. Gerard, Boelen, Anita, Dekkers, Eugenie, Petritis, Konstantinos, Pickens, C. Austin, van Spronsen, Francjan J., Heiner-Fokkema, M. Rebecca
Published in International journal of neonatal screening (01.12.2024)
Published in International journal of neonatal screening (01.12.2024)
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DNA methylation in blood from neonatal screening cards and the association with BMI and insulin sensitivity in early childhood
van Dijk, S J, Peters, T J, Buckley, M, Zhou, J, Jones, P A, Gibson, R A, Makrides, M, Muhlhausler, B S, Molloy, P L
Published in International Journal of Obesity (01.01.2018)
Published in International Journal of Obesity (01.01.2018)
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Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis
Shoraka, Hamid Reza, Haghdoost, Ali Akbar, Baneshi, Mohammad Reza, Bagherinezhad, Zohre, Zolala, Farzaneh
Published in Clinical and experimental pediatrics (01.02.2020)
Published in Clinical and experimental pediatrics (01.02.2020)
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Comparison between Gibson–Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis
Dolce, Daniela, Fevola, Cristina, Camera, Erica, Orioli, Tommaso, Lucenteforte, Ersilia, Malanima, Marco Andrea, Taccetti, Giovanni, Terlizzi, Vito
Published in International journal of neonatal screening (01.07.2023)
Published in International journal of neonatal screening (01.07.2023)
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Health status and lung function in the Swedish alpha 1-antitrypsin deficient cohort, identified by neonatal screening, at the age of 37-40 years
Piitulainen, Eeva, Mostafavi, Behrouz, Tanash, Hanan
Published in International journal of chronic obstructive pulmonary disease (01.01.2017)
Published in International journal of chronic obstructive pulmonary disease (01.01.2017)
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Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: A reliable and inexpensive method using tandem mass spectrometry
Azzari, Chiara, la Marca, Giancarlo, Resti, Massimo
Published in Journal of allergy and clinical immunology (01.06.2011)
Published in Journal of allergy and clinical immunology (01.06.2011)
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Sickle cell disease in French Guiana: assessing 30 years of neonatal screening (1992-2021)
Elenga, Narcisse, Ro, Vathanaksambath, Mafema Missindu, Joddy, Thomas Boizan, Noelis, Vaz, Tania, Lucarelli, Aude, Armoudon-Fleret, Marie Élise, Buendé, Solange
Published in Médecine tropicale et santé internationale (31.03.2024)
Published in Médecine tropicale et santé internationale (31.03.2024)
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Subtle Health Impairment and Socioeducational Attainment in Young Adult Patients with Congenital Hypothyroidism Diagnosed by Neonatal Screening: A Longitudinal Population-Based Cohort Study
Léger, Juliane, Ecosse, Emmanuel, Roussey, Michel, Lanoë, Jean Louis, Larroque, Béatrice
Published in The journal of clinical endocrinology and metabolism (01.06.2011)
Published in The journal of clinical endocrinology and metabolism (01.06.2011)
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Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results
Nascimento, Marilza Leal, Nascimento, Andre Leal, Dornbusch, Patricia, Ohira, Masanao, Simoni, Genoir, Cechinel, Edson, Linhares, Rose Marie Mueller, Lee, Juliana van De Sande, Silva, Paulo Cesar Alves
Published in Archives of Endocrinology and Metabolism (01.11.2021)
Published in Archives of Endocrinology and Metabolism (01.11.2021)
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Forecasting Hemoglobinopathy Burden Through Neonatal Screening in Omani Neonates
Alkindi, Salam, Al Zadjali, Shoaib, Al Madhani, Ali, Daar, Shahina, Al Haddabi, Hamood, Al Abri, Qamariya, Gravell, David, Berbar, Tsouria, Pravin, Sahaya, Pathare, Anil, Krishnamoorthy, Rajagopal
Published in Hemoglobin (01.04.2010)
Published in Hemoglobin (01.04.2010)
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Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis
Sharp, Seth A., Rich, Stephen S., Wood, Andrew R., Jones, Samuel E., Beaumont, Robin N., Harrison, James W., Schneider, Darius A., Locke, Jonathan M., Tyrrell, Jess, Weedon, Michael N., Hagopian, William A., Oram, Richard A.
Published in Diabetes care (01.02.2019)
Published in Diabetes care (01.02.2019)
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Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program
Lanting, Caren I, van Tijn, David A, Loeber, J Gerard, Vulsma, Thomas, de Vijlder, Jan J M, Verkerk, Paul H
Published in Pediatrics (Evanston) (01.07.2005)
Published in Pediatrics (Evanston) (01.07.2005)
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An overview of international literature from cystic fibrosis registries 2. Neonatal screening and nutrition/growth
Salvatore, Donatello, Buzzetti, Roberto, Baldo, Ermanno, Forneris, Maria Pia, Lucidi, Vincenzina, Manunza, Daniela, Marinelli, Italo, Messore, Barbara, Neri, Anna Silvia, Raia, Valeria, Furnari, Maria Lucia, Mastella, Gianni
Published in Journal of cystic fibrosis (01.03.2010)
Published in Journal of cystic fibrosis (01.03.2010)
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Cost-effectiveness of 4 neonatal screening strategies for cystic fibrosis
van den Akker-van Marle, M Elske, Dankert, Hinke M, Verkerk, Paul H, Dankert-Roelse, Jeannette E
Published in Pediatrics (Evanston) (01.09.2006)
Published in Pediatrics (Evanston) (01.09.2006)
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Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation
Kagawa, Reiko, Tajima, Go, Maeda, Takako, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Nishimura, Yutaka, Yuasa, Miori, Shigematsu, Yosuke, Tanaka, Hiromi, Fujihara, Saki, Yoshii, Chiyoko, Okada, Satoshi
Published in International journal of neonatal screening (07.07.2021)
Published in International journal of neonatal screening (07.07.2021)
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Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis
German, Alina, Almashanu, Shlomo, de Vries, Liat, Gil Margolis, Merav, Halloun, Rana, Haim, Alon, Eyal, Ori, Levy-Khademi, Floris, Pivko-Levy, Dikla, Nir, Judith, Pinhas-Hamiel, Orit, Tenenbaum-Rakover, Yardena
Published in The journal of clinical endocrinology and metabolism (01.05.2025)
Published in The journal of clinical endocrinology and metabolism (01.05.2025)
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Predischarge Screening for Severe Neonatal Hyperbilirubinemia Identifies Infants Who Need Phototherapy
Bhutani, Vinod K., Stark, Ann R., Lazzeroni, Laura C., Poland, Ronald, Gourley, Glenn R., Kazmierczak, Steve, Meloy, Linda, Burgos, Anthony E., Hall, Judith Y., Stevenson, David K.
Published in The Journal of pediatrics (01.03.2013)
Published in The Journal of pediatrics (01.03.2013)
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Critical Issues in the Management of CRMS/CFSPID Children: A National Real‐World Survey
Terlizzi, Vito, Fevola, Cristina, Presti, Santiago, Claut, Laura, Ambroni, Maura, Calderazzo, Maria Adelaide, Esposito, Irene, Fabrizzi, Benedetta, Leonetti, Giuseppina, Lombardo, Mariangela, Maschio, Massimo, Palladino, Nicola, Pauro, Francesca, Pisi, Giovanna, Ripani, Pietro, Ros, Mirco, Rotolo, Novella, Salvatore, Donatello, Sepe, Angela, Termini, Lisa, Timpano, Silviana, Troiani, Patrizia, Vitullo, Pamela, Zanda, Maurizio, Blasi, Francesco, Castellani, Carlo
Published in Pediatric pulmonology (01.01.2025)
Published in Pediatric pulmonology (01.01.2025)
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