Works matching IS 2409515X AND DT 2024 AND VI 10 AND IP 4

Results: 19

N-Acetyltyrosine as a Biomarker of Parenteral Nutrition Administration in First-Tier Newborn Screening Assays.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 81, doi. 10.3390/ijns10040081

By:

Pickens, C. Austin;
Sah, Samyukta;
Chandrappa, Rahul;
Isenberg, Samantha L.;
Courtney, Elya R.;
Lim, Timothy;
Chace, Donald H.;
Lee, Rachel;
Cuthbert, Carla;
Petritis, Konstantinos

Publication type:

Article

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 82, doi. 10.3390/ijns10040082

By:

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

Publication type:

Article

Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 72, doi. 10.3390/ijns10040072

By:

Alshehri, Abdullah S.;
Peer-Zada, Abdul A.;
Algadhi, Abeer A.;
Aldehaimi, Abdulwahed;
Saleh, Mohammed A.;
Mushiba, Aziza M.;
Faqeih, Eissa A.;
AlAsmari, Ali M.

Publication type:

Article

Cystic Fibrosis Screening Efficacy and Seasonal Variation in California: 15-Year Comparison of IRT Cutoffs Versus Daily Percentile for First-Tier Testing.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 76, doi. 10.3390/ijns10040076

By:

Sciortino, Stanley;
Graham, Steve;
Bishop, Tracey;
Matteson, Jamie;
Carter, Sarah;
Wu, Cindy H.;
Sharma, Rajesh

Publication type:

Article

Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 83, doi. 10.3390/ijns10040083

By:

Zaunseder, Elaine;
Teinert, Julian;
Boy, Nikolas;
Garbade, Sven F.;
Haupt, Saskia;
Feyh, Patrik;
Hoffmann, Georg F.;
Kölker, Stefan;
Mütze, Ulrike;
Heuveline, Vincent

Publication type:

Article

Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 80, doi. 10.3390/ijns10040080

By:

El Janahi, Sara;
Filali, Mounir;
Boudar, Zakia;
Akhattab, Amina;
El Jaoudi, Rachid;
Al Idrissi, Najib;
Dini, Nouzha;
Nejjari, Chakib;
Yahyaoui, Raquel;
Lloyd-Puryear, Michele A.;
Ghazal, Hassan

Publication type:

Article

Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 79, doi. 10.3390/ijns10040079

By:

Gragnaniello, Vincenza;
Cazzorla, Chiara;
Gueraldi, Daniela;
Loro, Christian;
Porcù, Elena;
Salviati, Leonardo;
Burlina, Alessandro P.;
Burlina, Alberto B.

Publication type:

Article

Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 78, doi. 10.3390/ijns10040078

By:

Ye, Liang;
Zhang, Yinhong;
Feng, Jizhen;
Huang, Cidan;
Wang, Xiaohua;
Han, Lianshu;
Huang, Yonglan;
Zou, Hui;
Zhu, Baosheng;
Miao, Jingkun

Publication type:

Article

Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 77, doi. 10.3390/ijns10040077

By:

Renoux, Céline;
Roland, Estelle;
Ruet, Séverine;
Zouaghi, Sarah;
Michel, Marie;
Joly, Philippe;
Feray, Cécile;
Zhao, Fanny;
Gavanier, Déborah;
Gaucherand, Pascal;
Roumieu, Fanny;
Cannas, Giovanna;
Merazga, Salima;
Connes, Philippe;
Renom, Gilles;
Massardier, Jérôme;
Cheillan, David

Publication type:

Article

American College of Medical Genetics and Genomics ACT Sheets Are a Vital Resource for State Newborn Screening Programs.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 75, doi. 10.3390/ijns10040075

By:

Sack, Virginia;
Etienne, Sara;
Beal, Grace;
Bradley, Sarah;
Caggana, Michele

Publication type:

Article

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 74, doi. 10.3390/ijns10040074

By:

Wong, Tsz Sum;
Wong, Sheila Suet Na;
Kwok, Anne Mei Kwun;
Wu, Helen;
Law, Hiu Fung;
Lam, Shirley;
Yeung, Matthew Chun Wing;
Chan, Toby Chun Hei;
Leung, Gordon;
Mak, Chloe Miu;
Belaramani, Kiran Moti;
Fung, Cheuk Wing

Publication type:

Article

Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 73, doi. 10.3390/ijns10040073

By:

Videbæk, Cecilie S.;
Grønborg, Sabine W.;
Lund, Allan M.;
Olesen, Mette L.

Publication type:

Article

A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 71, doi. 10.3390/ijns10040071

By:

Ayodele, Olulade;
Fertek, Daniel;
Evuarherhe, Obaro;
Siffel, Csaba;
Audi, Jennifer;
Yee, Karen S.;
Burton, Barbara K.

Publication type:

Article

The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 70, doi. 10.3390/ijns10040070

By:

Martens, Rosalie C.;
Boelen, Anita;
van der Kemp, Michèle H.;
Bosch, Annet M.;
Berghout, Eveline M.;
Weijman, Gert;
Zwaveling-Soonawala, Nitash;
Verschoof-Puite, Rendelien K.;
de Jonge, Robert;
Hannema, Sabine E.;
Bosmans, Judith E.;
Heijboer, Annemieke C.

Publication type:

Article

Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 69, doi. 10.3390/ijns10040069

By:

González de Aledo-Castillo, José Manuel;
Argudo-Ramírez, Ana;
Beneitez-Pastor, David;
Collado-Gimbert, Anna;
Almazán Castro, Francisco;
Roig-Bosch, Sílvia;
Andrés-Masó, Anna;
Ruiz-Llobet, Anna;
Pedrals-Portabella, Georgina;
Medina-Santamaria, David;
Nadal-Rey, Gemma;
Espigares-Salvia, Marina;
Coll-Sibina, Maria Teresa;
Algar-Serrano, Marcelina;
Torrent-Español, Montserrat;
Leoz-Allegretti, Pilar;
Rodríguez-Pebé, Anabel;
García-Bernal, Marta;
Solà-Segura, Elisabet;
García-Gallego, Amparo

Publication type:

Article

Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 68, doi. 10.3390/ijns10040068

By:

Hu, Haili;
Ma, Qingqing;
Li, Weidong;
Wang, Yan;
Song, Wangsheng;
Huang, Yong

Publication type:

Article

A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 67, doi. 10.3390/ijns10040067

By:

Galadanci, Aisha A.;
Ibrahim, Umma A.;
Carroll, Yvonne;
Jobbi, Yusuf D.;
Farouk, Zubaida L.;
Mukaddas, Aisha;
Hussaini, Nafiu;
Sani Musa, Bilya;
Klein, Lauren J.;
DeBaun, Michael R.

Publication type:

Article

Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9 , 66".

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 66, doi. 10.3390/ijns10040066

By:

Dijkstra, Allysa M.;
Evers-van Vliet, Kimber;
Heiner-Fokkema, M. Rebecca;
Bodewes, Frank A. J. A.;
Bos, Dennis K.;
Zsiros, József;
van Aerde, Koen J.;
Koop, Klaas;
van Spronsen, Francjan J.;
Lubout, Charlotte M. A.

Publication type:

Article

Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9 , 66.

Published in:

2024

By:

Bouva, Marelle J.;
Maase, Rose E.;
van Elburg, Ruurd M.

Publication type:

Letter