المؤلفون: Uppal, Komal, Joshi, Chandrika, Polipalli, Sunil Kumar, Kumar, Somesh, Jindal, Ankur, Gupta, Sangeeta, Verma, Amar, Kapoor, Seema

المصدر: International Journal of Contemporary Pediatrics; Vol. 11 No. 2 (2024): February 2024; 167-171 ; 2349-3291 ; 2349-3283

مصطلحات موضوعية: Antenatal screening, New born screening, UMMID

وصف الملف: application/pdf

Relation: https://www.ijpediatrics.com/index.php/ijcp/article/view/5821/3578; https://www.ijpediatrics.com/index.php/ijcp/article/view/5821

الاتاحة: https://www.ijpediatrics.com/index.php/ijcp/article/view/5821
https://doi.org/10.18203/2349-3291.ijcp20240092

المؤلفون: Sumaya Al Zarouni, Noor Majed Al Mheiri, Kalthoom Al Blooshi, Yousif Al Serkal, Neema Preman, Sadaf Ahsan Naqvi, Yasir Khan

المصدر: BMC Medical Informatics and Decision Making, Vol 22, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Critical congenital heart disease, Electronic medical record, New-born screening, Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6947

URL الوصول: https://doaj.org/article/38e2e7b5cf344002bf75737c399d355a

المؤلفون: Al-Bari, Abdul Alim

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2022 10

مصطلحات موضوعية: Phenylketonuria, new-born screening, dried blood spot (DBS) cards, Guthrie test, Bangladesh

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100402

المؤلفون: SMITHA KALARIKKAL SATHEESAN, SHIBU THADATHIL SREEDHARAN, GILSA ENGOOR SATHIANDRANATHAN, GEETHA DAMODARAN KOZHIPARAMBIL

المصدر: National Journal of Laboratory Medicine, Vol 11, Iss 01, Pp 07-10 (2022)

مصطلحات موضوعية: brain, congenital hypothyroidism, enzyme linked immunosorbent assay, new born screening, Microbiology, QR1-502, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.njlm.net/articles/PDF/2571/51307_CE[Ra1]_F(SHU)_PF1(AKA_SS)_PFA(AKA_SHU_KM)_PN(KM).pdf; https://doaj.org/toc/2277-8551; https://doaj.org/toc/2455-6882

URL الوصول: https://doaj.org/article/1a07056ebd2a41fdbc58a0f677291b04

المؤلفون: Mohan Naidu.K, Muralinath.E, Amrutham Sandeep, Vinayasree.C, Venkat Naveen.A, Guruprasad.M, Sravani Pragna.K

المصدر: Journal of Mental health, Psychiatric and Psychosocial Nursing, 1(2), 16-22, (2023-07-11)

مصطلحات موضوعية: Metabolic disoeders, genetic disorder, phenyl alanine hydroxylase (PAH), classical PKU, Non classical PKU, variant forms of PKU, Autosomal recessive disorder, hyperacxtivity,impulsivity, microcephaly, small head size, high-protein foods namely dairy products, eggs, fish, meat, grains, long-term cognitive impairement, sapropterin, enzyme replacement therapy, gene therapy, Attention deficit hyperactivity diorder (ADHD), autism spectrum diorders, new born screening, phenotypes, Tetrahydrobiopterin (BH4), neuro developmental challenges, advanced molecular testing, intellectual disability, irratability and pegvaliase

Relation: https://zenodo.org/communities/nurse; https://doi.org/10.5281/zenodo.8134543; https://doi.org/10.5281/zenodo.8134544; oai:zenodo.org:8134544

الاتاحة: https://doi.org/10.5281/zenodo.8134544

المؤلفون: Sunil Sazawal, Kelli K. Ryckman, Sayan Das, Rasheda Khanam, Imran Nisar, Elizabeth Jasper, Arup Dutta, Sayedur Rahman, Usma Mehmood, Bruce Bedell, Saikat Deb, Nabidul Haque Chowdhury, Amina Barkat, Harshita Mittal, Salahuddin Ahmed, Farah Khalid, Rubhana Raqib, Alexander Manu, Sachiyo Yoshida, Muhammad Ilyas, Ambreen Nizar, Said Mohammed Ali, Abdullah H. Baqui, Fyezah Jehan, Usha Dhingra, Rajiv Bahl

المصدر: BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Pre-term births, Machine learning, Gestational age, New born screening, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2393

URL الوصول: https://doaj.org/article/dbf7ff6b4be4486384af961f4147d3a8

المؤلفون: Noshaba Noor, Hira Waseem

المصدر: Khyber Medical University Journal, Vol 14, Iss 1, Pp 71-3 (2022)

مصطلحات موضوعية: glutaric aciduria type i, multiple acyl coenzyme a dehydrogenase deficiency, new born screening, inborn error of metabolism, organic aciduria, organic academia, autosomal recessive, neurometabolic disorder, glutaric acidemia, Medicine

وصف الملف: electronic resource

Relation: https://www.kmuj.kmu.edu.pk/article/view/21984; https://doaj.org/toc/2305-2643; https://doaj.org/toc/2305-2651

URL الوصول: https://doaj.org/article/ec3a4d53283d42b18f4b309f76058a83

المؤلفون: M. Olszowiec-Chlebna, E. Mospinek, J. Jerzynska

المصدر: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Cystic fibrosis, New born screening, Diagnosis, IRT/DNA protocol, Children, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/1b995617cb6c441aa3f5bed56b8811ae

المؤلفون: Raymond Charles Ehiem, Bernard Walter L Lawson, John Asiedu Larbi

المصدر: Journal of Clinical and Diagnostic Research, Vol 16, Iss 4, Pp LC27-LC34 (2022)

مصطلحات موضوعية: anaemia, new born screening, parasite density, plasmodium, sickle cell disease, Medicine

وصف الملف: electronic resource

Relation: https://www.jcdr.net/articles/PDF/16218/52416_CE[Ra1]_F(KR)_PF1(SC_SS)_PFA(SC_KM)_PN(KM).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X

URL الوصول: https://doaj.org/article/e7ec7c379d78425c84855a5a1108f86d

المؤلفون: Abdul Alim Al-Bari

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)

مصطلحات موضوعية: Phenylketonuria, new-born screening, dried blood spot (DBS) cards, Guthrie test, Bangladesh, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100402&lng=en&tlng=en; http://www.scielo.br/pdf/jiems/v10/2326-4594-jiems-10-e20210024.pdf; https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/74613a3f59e74850bf3470ea88794e02

المؤلفون: Haitjema, Sietske, Lubout, Charlotte M.A., Zijlstra, Justine H.M., Wolffenbuttel, Bruce H.R., van Spronsen, Francjan J.

المصدر: Haitjema , S , Lubout , C M A , Zijlstra , J H M , Wolffenbuttel , B H R & van Spronsen , F J 2022 , ' Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands : The Parental Perspective ' , Nutrients , vol. 14 , no. 19 , 3961 . https://doi.org/10.3390/nu14193961

مصطلحات موضوعية: communication, general practitioner, new-born screening, parental perspective, phenylketonuria

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/5fe6480b-9b98-44f4-8269-cb93c3fe9001
https://research.rug.nl/en/publications/5fe6480b-9b98-44f4-8269-cb93c3fe9001
https://doi.org/10.3390/nu14193961
https://pure.rug.nl/ws/files/250271050/nutrients_14_03961_v2.pdf

المؤلفون: Linda Gailite, Olga Sterna, Maija Konika, Aleksejs Isakovs, Jekaterina Isakova, Ieva Micule, Signe Setlere, Mikus Diriks, Madara Auzenbaha

المصدر: International Journal of Neonatal Screening; Volume 8; Issue 1; Pages: 15

مصطلحات موضوعية: spinal muscular atrophy, SMN1, dried blood spot screening, new-born screening, SMA 5q

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns8010015

الاتاحة: https://doi.org/10.3390/ijns8010015

المؤلفون: Pàmpols Ros, Teresa, Pérez Aytés, Antonio, García Sagredo, José Miguel, Díaz de Bustamante, Aránzazu, Martín Arribas, Concepción, García López, Fernando José, Nicolás Jiménez, María Pilar, Dulín Iñiguez, Elena, Labrador Cañadas, Mª Vicenta

مصطلحات موضوعية: cribado neonatal, prueba del talón, cribado genético, cribado neonatal de enfermedades raras, cribado neonatal de enfermedades endocrino metabólicas, aspectos éticos del cribado neonatal, ética de salud pública, principios de Wilson y Jungner, aspectos éticos, legales y sociales (AELS), newborn screenin, blood spot screening, genetic screening, rare disease screening, ethical issues in new - born screening, public health ethics, Wilson-Jungner criteria, ethical, legal and social issues (ELSIEs)

Relation: Revista espanola de salud pública 95 : (2021) // Article ID e202101008; http://hdl.handle.net/10810/55168

الاتاحة: http://hdl.handle.net/10810/55168

المؤلفون: Sazawal, Sunil, Ryckman, Kelli K, Das, Sayan, Nisar, Muhammad Imran, Mehmood, Usma, Barkat, Amina, Khalid, Farah, Muhammad Ilyas, Muhammad Ilyas, Nizar, Ambreen, Jehan, Fyezah

المصدر: Department of Paediatrics and Child Health

مصطلحات موضوعية: Gestational age, Machine learning, New born screening, Pre-term births, Female Urogenital Diseases and Pregnancy Complications, Maternal and Child Health, Obstetrics and Gynecology, Pediatrics

وصف الملف: application/pdf

Relation: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1068; https://ecommons.aku.edu/context/pakistan_fhs_mc_women_childhealth_paediatr/article/2067/viewcontent/s12884_021_04067_y.pdf

الاتاحة: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1068
https://ecommons.aku.edu/context/pakistan_fhs_mc_women_childhealth_paediatr/article/2067/viewcontent/s12884_021_04067_y.pdf

المؤلفون: Leonor, Guiñón, Anna, Soler, Rosa María, López, Sonia, Pajares, José Manuel González, de Aledo, Ana, Argudo-Ramírez, José Luis, Marín, Judit, García-Villoria, Ángeles, Sahuquillo, Luisa, Alvarez

المصدر: Biochemia Medica
Volume 32
Issue 3

مصطلحات موضوعية: Hemoglobins, Biochemistry (medical), Clinical Biochemistry, accreditation, extra-analytical phase, new-born screening, quality control, Humans, Reproducibility of Results

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5522c22bf40a2daaf34937fd14a4659b
https://doi.org/10.11613/bm.2022.030901

المؤلفون: Chihiro Nakayama, Kaoru Eto, Kiyoshi Mizuochi, Osamu Segawa, Satoru Nagata, Yoichiro Kaburaki, Yuki Suzuki, 世川 修, 中山 千尋, 水落 清, 永田 智, 衛藤 薫, 鈴木 悠貴, 鏑木 陽一郎

المصدر: 東京女子医科大学雑誌 / Journal of Tokyo Women's Medical University. 2021, 91(2):136

المؤلفون: Späth Peter J.

المصدر: Romanian Journal of Laboratory Medicine, Vol 22, Iss 3, Pp 297-309 (2014)

مصطلحات موضوعية: awareness, early diagnosis, gene therapy, hematopoietic stem cell transplantation, immunoglobulin g concentrates, new-born screening, primary immunodeficiencies, replacement therapy, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2284-5623

URL الوصول: https://doaj.org/article/3d9daf19e6fc462795769a8a40ea1f51

المصدر: 東京女子医科大学雑誌. 91(2):136-142

مصطلحات موضوعية: failure to thrive, neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), citrine deficiency, adult-onset typeII citrullinemia (CTLN2), new born screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=jairo_______::106ee9b82d94f1d7ebcdde56150dbca7
http://hdl.handle.net/10470/00032876

المؤلفون: M., Regina, Moideen, Sanu P., M., Mohan, M.T.P., Mohammed, Afroze M., Khizer Hussain

المصدر: International Journal of Contemporary Pediatrics; Vol. 4 No. 2 (2017): March-April 2017; 507-511 ; 2349-3291 ; 2349-3283

مصطلحات موضوعية: Hearing impairment, Neonatal screening, New born screening, OAE, Risk infants, Universal screening

وصف الملف: application/pdf

Relation: https://www.ijpediatrics.com/index.php/ijcp/article/view/676/580; https://www.ijpediatrics.com/index.php/ijcp/article/view/676

الاتاحة: https://www.ijpediatrics.com/index.php/ijcp/article/view/676
https://doi.org/10.18203/2349-3291.ijcp20170699

المؤلفون: Md. Abdul Alim Al-Bari

المصدر: Journal of Inborn Errors of Metabolism and Screening, Volume: 10, Article number: e20210024, Published: 28 FEB 2022
Journal of Inborn Errors of Metabolism and Screening v.10 2022
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT

مصطلحات موضوعية: Bangladesh, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Guthrie test, Phenylketonuria, dried blood spot (DBS) cards, new-born screening, Genetics (clinical)

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42ca8cd3038c63df00116b797d0ff66f
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942022000100402&lng=en&tlng=en