Works matching DE "NEWBORN screening"

Results: 3272

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.

Published in:

Metabolites (2218-1989), 2025, v. 15, n. 5, p. 308, doi. 10.3390/metabo15050308

By:

Tommolini, Maria Lucia;
Cufaro, Maria Concetta;
Valentinuzzi, Silvia;
Cicalini, Ilaria;
Zucchelli, Mirco;
Frisco, Alberto;
Simonetti, Simonetta;
Perrone Donnorso, Michela;
Moccia, Sara;
Bucci, Ines;
Aricò, Maurizio;
De Laurenzi, Vincenzo;
Federici, Luca;
Pieragostino, Damiana;
Rossi, Claudia

Publication type:

Article

Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis Open Access.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1653, doi. 10.1210/clinem/dgae485

By:

German, Alina;
Almashanu, Shlomo;
Vries, Liat de;
Margolis, Merav Gil;
Halloun, Rana;
Haim, Alon;
Eyal, Ori;
Levy-Khademi, Floris;
Pivko-Levy, Dikla;
Nir, Judith;
Pinhas-Hamiel, Orit;
Tenenbaum-Rakover, Yardena

Publication type:

Article

Follow-up de desenvolvimento neurológico em lactentes de risco por meio da Brief-HINE.

Published in:

Revista Movimenta, 2025, v. 18, n. 1, p. 47

By:

Martins de Souza, Isadora;
Aguilera Santos, Bruna;
Netto Moreira Alves, Egle de Oliveira;
Marques Felcar, Josiane

Publication type:

Article

Utilização do Hammersmith Neonatal Neurological Examination (HNNE) antes das 40 semanas de idade gestacional: uma revisão sistemática.

Published in:

Revista Movimenta, 2025, v. 18, n. 1, p. 11

By:

de Oliveira Cordeiro, Gleice;
Oliveira Vieira, Graciete;
da Cruz Martins, Camilla;
Martins Tavares, Letícia Maciel;
Carvalho da Silva, Ester

Publication type:

Article

Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests.

Published in:

Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 7, p. 1344, doi. 10.1515/cclm-2024-1230

By:

Damiano, Roberta;
Della Bona, Maria;
Procopio, Elena;
Guerrini, Renzo;
Bettiol, Alessandra;
la Marca, Giancarlo

Publication type:

Article

Worsening of Congenital Hypothyroidism After Start of Carobbean Gum Thickened Formula: Is There a Link? A Case Report.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 237, doi. 10.4274/jcrpe.galenos.2023.2023-9-12

By:

Signorino, Claudia;
Municchi, Giovanna;
Ferrari, Marta;
Stagi, Stefano

Publication type:

Article

Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 219, doi. 10.4274/jcrpe.galenos.2023.2023-3-11

By:

González-Rodríguez, Juan D.;
Inglés-Torres, Esther Q.;
Cabrera-Sevilla, José E.;
Ibáñez-Micó, Salvador;
Bermejo-Costa, Francisca;
Vera-Carbonell, Ascensión;
Bafalliu-Vidal, Juan A.;
Cortés-Mora, Pedro;
Lorente-Nicolás, Ana;
Donate-Legaz, José María

Publication type:

Article

Viral infections detected by serology and PCR of perilymphatic fluid in children with idiopathic sensorineural hearing loss.

Published in:

Eastern Mediterranean Health Journal, 2011, v. 17, n. 11, p. 868, doi. 10.26719/2011.17.11.868

By:

Noorbakhsh, S.;
Farhadi, M.;
Daneshi, A.;
Mohamadi, S.;
Tabatabaei, A.

Publication type:

Article

RELAÇÃO ENTRE OS ASPECTOS CLÍNICOS, PLACENTÁRIOS, OBSTÉTRICOS E NEONATAIS E O CRESCIMENTO INTRAUTERINO NA GESTAÇÃO DE ALTO RISCO.

Published in:

Texto & Contexto Enfermagem, 2017, v. 26, n. 2, p. 1, doi. 10.1590/0104-07072017005520015

By:

Marques Salge, Ana Karina;
Calciolari Rossi e. Silva, Renata;
Valadares Guimarães, Janaína;
Silva Ramalho, Wilzianne;
Abdalla, Douglas Reis;
Kemil Abdalla, George

Publication type:

Article

微滴量复方托吡卡胺在新生儿眼底病变筛查中的应用.

Published in:

Chinese Nursing Research, 2024, v. 38, n. 23, p. 4278, doi. 10.12102/j.issn.1009-6493.2024.23.024

By:

陈艾;
赵小莉;
李会

Publication type:

Article

4例连续肾脏替代治疗新生儿遗传代谢疾病合并高氨血症的救治与护理.

Published in:

Chinese Nursing Research, 2023, v. 37, n. 20, p. 3755, doi. 10.12102/j.issn.1009-6493.2023.20.027

By:

谢帅华

Publication type:

Article

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis.

Published in:

Brazilian Journal of Mother & Child Health (BJMCH) / Revista Brasileira de Saude Materno Infantil (RBSMI), 2024, v. 24, p. 1, doi. 10.1590/1806-9304202400000235-en

By:

Godoy, Carolina;
Radel, Igor;
Ribeiro Mota, Laís;
Augusta Santos, Marília;
Terse, Regina;
Lúcia Souza, Edna

Publication type:

Article

Neonatal hearing screening programs: quality indicators and access to health services.

Published in:

Brazilian Journal of Mother & Child Health (BJMCH) / Revista Brasileira de Saude Materno Infantil (RBSMI), 2022, v. 22, n. 3, p. 593, doi. 10.1590/1806-9304202200030009

By:

Paschoal Dutra, Monique Ramos;
Gottschalck Cavalcanti, Hannalice;
Fernandes Ferreira, Maria Ângela

Publication type:

Article

Effects of elective cesarean sections on perinatal outcomes and care practices.

Published in:

Brazilian Journal of Mother & Child Health (BJMCH) / Revista Brasileira de Saude Materno Infantil (RBSMI), 2020, v. 20, n. 3, p. 879, doi. 10.1590/1806-93042020000300012

By:

Ferrari, Anna Paula;
Mialich Almeida, Maiara Aparecida;
Barros Leite Carvalhaes, Maria Antonieta;
Garcia de Lima Parada, Cristina Maria

Publication type:

Article

Guthrie test: pregnant women's perception during prenatal care.

Published in:

Brazilian Journal of Mother & Child Health (BJMCH) / Revista Brasileira de Saude Materno Infantil (RBSMI), 2017, v. 17, n. 2, p. 291, doi. 10.1590/1806-93042017000200005

By:

Custódio Silva, Maria Paula;
Contim, Divanice;
Aparecida Ferreira, Lúcia;
de Marqui, Alessandra Bernadete Trovó

Publication type:

Article

Prediction of small for gestational age newborns using ultrasound estimated and actual amniotic fluid volume: Published data revisited.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2008, v. 48, n. 2, p. 160, doi. 10.1111/j.1479-828X.2008.00830.x

By:

Chauhan, Suneet P.;
Magann, Everett F.;
Dohrety, Dorota A.;
Ennen, Christopher S.;
Niederhauser, Amy;
Morrison, John C.

Publication type:

Article

Use of umbilical artery Doppler velocimetry in the monitoring of pregnancy in women with pre-existing diabetes.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2003, v. 43, n. 4, p. 302, doi. 10.1046/j.0004-8666.2003.00094.x

By:

Wong, Shell Fean;
Chan, Fung Yee;
Cincotta, Robert B;
McIntyre, David H;
Stone, Murray

Publication type:

Article

Comparison Between Two Protocols for Ankyloglossia Diagnosis in Newborn Babies.

Published in:

Pediatric Dentistry, 2022, v. 44, n. 1, p. 52

By:

Diniz Queiroz, Ingrid Quaresma;
Coelho Leal, Soraya;
Silva Alves, Winnie Nascimento;
Brito Pereira Damasceno, Iza Mara;
Da Silva Figueiredo Sé, Maria José;
Pereira Costa, Vanessa Polina

Publication type:

Article

Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient.

Published in:

2024

By:

Kannan, Balachander;
Jayaseelan, Vijayashree Priyadharsini;
Arumugam, Paramasivam;
Navamani, Hephzibah Kirubamani;
DV, Lal

Publication type:

Case Study

Newborn Screening for Critical Congenital Heart Disease: Appropriately Evaluating This Public Health Program.

Published in:

2020

By:

Oster, Matthew E.;
Martin, Gerard R.

Publication type:

Letter

Comprehensive Functional Echocardiographic Assessment of Transposition of the Great Arteries: From Fetus to Newborn.

Published in:

Pediatric Cardiology, 2020, v. 41, n. 4, p. 687, doi. 10.1007/s00246-019-02279-w

By:

Walter, Carin;
Soveral, Iris;
Bartrons, Joaquim;
Escobar, María Clara;
Carretero, Juan Manuel;
Quirado, Laura;
Gómez, Olga;
Sánchez-de-Toledo, Joan

Publication type:

Article

Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report.

Published in:

International Journal of Legal Medicine, 2020, v. 134, n. 5, p. 1639, doi. 10.1007/s00414-020-02337-6

By:

Heathfield, Laura Jane;
Bhengu, Wenelisile;
Louw, Susan;
Martin, Lorna Jean;
Ramesar, Raj

Publication type:

Article

Single dose epidural hydromorphone in labour pain: maternal pharmacokinetics and neonatal exposure.

Published in:

European Journal of Clinical Pharmacology, 2020, v. 76, n. 7, p. 969, doi. 10.1007/s00228-020-02880-6

By:

Puhto, Terhi;
Kokki, Merja;
Hakomäki, Henriikka;
Spalding, Michael;
Gunnar, Teemu;
Alahuhta, Seppo;
Vakkala, Merja

Publication type:

Article

The impact of exposure to antidepressant medications during pregnancy on neonatal outcomes: a review of retrospective database cohort studies.

Published in:

European Journal of Clinical Pharmacology, 2017, v. 73, n. 9, p. 1055, doi. 10.1007/s00228-017-2269-4

By:

Tak, Casey;
Job, Kathleen;
Schoen-Gentry, Katie;
Campbell, Sarah;
Carroll, Patrick;
Costantine, Maged;
Brixner, Diana;
Birnbaum, Angela;
Sherwin, Catherine

Publication type:

Article

A simple method for the analysis by MS/MS of underivatized amino acids on dry blood spots from newborn screening.

Published in:

Amino Acids, 2012, v. 42, n. 5, p. 1889, doi. 10.1007/s00726-011-0910-6

By:

Wang, Chunyan;
Zhang, Wenyan;
Song, Fengrui;
Liu, Zhiqiang;
Liu, Shuying

Publication type:

Article

Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies.

Published in:

2020

By:

Delmonte, Ottavia Maria;
Notarangelo, Luigi Daniele;
Delmonte, Ottavia Maria;
Notarangelo, Luigi Daniele

Publication type:

journal article

Effects of maturation on parameters used for pass/fail criteria in neonatal hearing screening programmes using evoked otoacoustic emissions.

Published in:

2007

By:

Sadri, Maziar;
Thornton, A. Roger D.;
Kennedy, Colin R.

Publication type:

journal article

Audiological Outcome of Infants with Congenital Cytomegalovirus Infection in a Prospective Study.

Published in:

Audiology & Neurotology, 2007, v. 12, n. 1, p. 31, doi. 10.1159/000096156

By:

Iwasaki, Satoshi;
Yamashita, Miwa;
Maeda, Makoto;
Misawa, Kiyoshi;
Mineta, Hiroyuki

Publication type:

Article

Vestibular Evoked Myogenic Potentials in Newborns.

Published in:

Audiology & Neurotology, 2007, v. 12, n. 1, p. 59, doi. 10.1159/000097248

By:

Chen, Chun-Nan;
Wang, Shou-Jen;
Wang, Chi-Te;
Hsieh, Wu-Shiun;
Young, Yi-Ho

Publication type:

Article

Doğumsal Sitomegalovirüs Enfeksiyonları ve İşitme Kaybı: Türkiye'de Ulusal Düzeyde Tarama Programına Gereksinim Var mı?

Published in:

Journal of Ear, Nose & Throat & Head & Neck Surgery, 2023, v. 31, n. 1, p. 50, doi. 10.24179/kbbbbc.2022-93162

By:

KEMALOĞLU, Yusuf Kemal;
KESKİN YILDIZ, Melis;
ÇINAR, Rahşan

Publication type:

Article

Evaluation of Metabolic Disorders in Pediatric Department at Zagazig University Hospital.

Published in:

Zagazig University Medical Journal, 2023, v. 29, n. 2, p. 442, doi. 10.21608/zumj.2021.72829.2196

By:

Elsayyad, Esraa H.;
Beshir, Mohamed R.;
Emam, Ahmed

Publication type:

Article

NUDO VERDADERO DE CORDÓN UMBILICAL: REPORTE DE CASO.

Published in:

Peruvian Journal of Maternal Perinatal Research / Revista Peruana de Investigación Materno Perinatal, 2024, v. 13, n. 2, p. 35, doi. 10.33421/inmp.2024405

By:

García Agudelo, Lorena;
Leguizamón Martínez, Sandra Yaneth;
Holguín Barrera, Mónica Liseth

Publication type:

Article

The Relationship between Mid Upper Arm Circumference and Newborn Anthropometry Outcomes in West Sumatera, Indonesia.

Published in:

Amerta Nutrition, 2024, v. 8, p. 151, doi. 10.20473/amnt.v8i3SP.2024.151-161

By:

Mulyono, Andriani;
Aji, Arif Sabta;
Irwanti, Winda;
Afifah, Effatul;
Lipoeto, Nur Indrawaty

Publication type:

Article

The reliability of Ponderal Index in predicting short-term complications of small for gestational age term infants.

Published in:

Ümraniye Pediatri Dergisi, 2024, v. 4, n. 2, p. 66, doi. 10.14744/upd.2024.83997

By:

Erçin, Seçil;
Coşkun, Yeşim;
Gürsoy, Tuğba

Publication type:

Article

Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing Countries.

Published in:

Advanced Biology, 2023, v. 7, n. 7, p. 1, doi. 10.1002/adbi.202200318

By:

Wasim, Muhammad;
Khan, Haq Nawaz;
Ayesha, Hina;
Awan, Fazli Rabbi

Publication type:

Article

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

Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 22, doi. 10.3390/ijns11010022

By:

Wang, Xudong;
Lu, Xingxiu;
Zheng, Faming;
Lin, Kun;
Liao, Minjuan;
Dong, Yi;
Chen, Tiantian;
He, Ying;
Lu, Mei;
Chen, Jing;
Li, Yanfang;
Zhou, Yulin

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

Oral and Poster Abstracts of the 13th ISNS European Regional Meeting.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 21, doi. 10.3390/ijns11010021

By:

Hall, Kate;
Schielen, Peter C. J. I.;
Platis, Dimitris

Publication type:

Article

Evaluation of the Florida Newborn Screening Program Education Campaign.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 20, doi. 10.3390/ijns11010020

By:

Richey, Mirine;
Wilson, Cynthia B.;
Jia, Minna;
Galbraith, Travis

Publication type:

Article

Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait †.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 19, doi. 10.3390/ijns11010019

By:

Alsharhan, Hind;
Ahmed, Amir A.;
Abdullah, Marwa;
Almaie, Moudhi;
Marafie, Makia J.;
Sulaiman, Ibrahim;
Elshafie, Reem M.;
Alahmad, Ahmad;
Alshammari, Asma;
Cyril, Parakkal Xavier;
Elkazzaz, Usama M.;
Ibrahim, Samia M.;
Elghitany, Mohamed;
Salloum, Ayman M.;
Yassen, Fahmy;
Alsafi, Rasha;
Bastaki, Laila;
Albash, Buthaina

Publication type:

Article

International Survey on Phenylketonuria Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 18, doi. 10.3390/ijns11010018

By:

Trampuž, Domen;
Schielen, Peter C. J. I.;
Zetterström, Rolf H.;
Scarpa, Maurizio;
Feillet, François;
Kožich, Viktor;
Tangeraas, Trine;
Drole Torkar, Ana;
Mlinarič, Matej;
Perko, Daša;
Remec, Žiga Iztok;
Lampret, Barbka Repič;
Battelino, Tadej;
van Spronsen, Francjan J.;
Bonham, James R.;
Grošelj, Urh

Publication type:

Article

Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 17, doi. 10.3390/ijns11010017

By:

de Castro Lopez, Maria Jose;
White, Fiona J.;
Holmes, Victoria;
Roberts, Jane;
Wu, Teresa H. Y.;
Cooper, James A.;
Church, Heather J.;
Petts, Gemma;
Wynn, Robert F.;
Jones, Simon A.;
Ghosh, Arunabha

Publication type:

Article

Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 16, doi. 10.3390/ijns11010016

By:

Ron, Hayley A.;
Kane, Owen;
Guo, Rose;
Menello, Caitlin;
Engelhardt, Nicole;
Pressley, Shaney;
DiBoscio, Brenda;
Steffensen, Madeline;
Cuddapah, Sanmati;
Ng, Kim;
Ficicioglu, Can;
Ahrens-Nicklas, Rebecca C.

Publication type:

Article

Non-Uptake of Newborn Screening in Planned Homebirth Is Associated with Preventive Health Practices for Infants: A Retrospective Case-Control Study.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 15, doi. 10.3390/ijns11010015

By:

Stein-Zamir, Chen;
Shoob, Hanna;
Katan, Sandra;
Verbov, Gina;
Almashanu, Shlomo

Publication type:

Article

Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 14, doi. 10.3390/ijns11010014

By:

Cazzorla, Chiara;
Gragnaniello, Vincenza;
Gaiga, Giacomo;
Gueraldi, Daniela;
Puma, Andrea;
Loro, Christian;
Benetti, Giada;
Schiavo, Rossana;
Porcù, Elena;
Burlina, Alessandro P.;
Burlina, Alberto B.

Publication type:

Article

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

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 13, doi. 10.3390/ijns11010013

By:

Schielen, Peter C. J. I.;
Webster, Dianne;
Loeber, J. Gerard;
Bonham, James R.

Publication type:

Article

Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Hemoglobinopathies for Confirmation of Alpha-Thalassemia Trait.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 12, doi. 10.3390/ijns11010012

By:

Shook, Lisa M.;
Haygood, Deidra;
Quinn, Charles T.

Publication type:

Article