Zobrazeno 1 - 10
of 75
pro vyhledávání: '"new-born screening"'
Autor:
Sumaya Al Zarouni, Noor Majed Al Mheiri, Kalthoom Al Blooshi, Yousif Al Serkal, Neema Preman, Sadaf Ahsan Naqvi, Yasir Khan
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 22, Iss 1, Pp 1-7 (2022)
Abstract Background Almost eight children per 1000 live births are expected to have a congenital heart defect globally. The seven most critical congenital heart conditions that cause severe compromise on the patient’s quality and duration of life a
Externí odkaz:
https://doaj.org/article/38e2e7b5cf344002bf75737c399d355a
Autor:
SMITHA KALARIKKAL SATHEESAN, SHIBU THADATHIL SREEDHARAN, GILSA ENGOOR SATHIANDRANATHAN, GEETHA DAMODARAN KOZHIPARAMBIL
Publikováno v:
National Journal of Laboratory Medicine, Vol 11, Iss 01, Pp 07-10 (2022)
Introduction: Even though Congenital hypothyroidism (CH) is one of the most common causes of preventable mental retardation, diagnosis at birth is difficult due to absent or delayed clinical manifestations, owing to the transplacental transfer of
Externí odkaz:
https://doaj.org/article/1a07056ebd2a41fdbc58a0f677291b04
Autor:
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
Publikováno v:
BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-11 (2021)
Abstract Background Babies born early and/or small for gestational age in Low and Middle-income countries (LMICs) contribute substantially to global neonatal and infant mortality. Tracking this metric is critical at a population level for informed po
Externí odkaz:
https://doaj.org/article/dbf7ff6b4be4486384af961f4147d3a8
Autor:
Noshaba Noor, Hira Waseem
Publikováno v:
Khyber Medical University Journal, Vol 14, Iss 1, Pp 71-3 (2022)
INTRODUCTION: Glutaric aciduria type 1 is a neurometabolic disorder occurring due to deficient activity of glutaryl-CoA dehydrogenase. Multiple neurotoxic metabolites start accumulating in plasma, CSF and urine which are detected by mass spectrometry
Externí odkaz:
https://doaj.org/article/ec3a4d53283d42b18f4b309f76058a83
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-7 (2021)
Abstract Background Cystic Fibrosis newborn screening (CFNBS) is the optimal method to diagnose the disease during the asymptomatic period. The aim of the study was to determine how CFNBS affects long term clinical outcomes. Methods Data from infants
Externí odkaz:
https://doaj.org/article/1b995617cb6c441aa3f5bed56b8811ae
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 16, Iss 4, Pp LC27-LC34 (2022)
Introduction: Malaria and conditions associated with common haemoglobinopathies constitute a health threat to young children in sub-Saharan Africa. Malaria is known to exert some influence on common haemoglobin variants while haemoglobinopathies also
Externí odkaz:
https://doaj.org/article/e7ec7c379d78425c84855a5a1108f86d
Autor:
Abdul Alim Al-Bari
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)
Abstract Phenylketonuria (PKU) is a correctable inborn error of metabolism which causes lethal intellectual delay and neurobehavioral anomalies. A screening package, especially for early recognition can support to regulate the PKU process of most pat
Externí odkaz:
https://doaj.org/article/74613a3f59e74850bf3470ea88794e02
Autor:
Linda Gailite, Olga Sterna, Maija Konika, Aleksejs Isakovs, Jekaterina Isakova, Ieva Micule, Signe Setlere, Mikus Diriks, Madara Auzenbaha
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 15 (2022)
New disease-modifying treatments have recently been approved for 5q spinal muscular atrophy (SMA) and early treatment has been associated with a better clinical outcome. Accordingly, new-born screening (NBS) for SMA should be implemented to ensure ea
Externí odkaz:
https://doaj.org/article/de01cb2b6fc34a1292987622e11fd7b8
Autor:
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
Publikováno v:
Biochemia Medica
Volume 32
Issue 3
Volume 32
Issue 3
IntroductionTo ensure the quality of the new-born screening (NBS), our laboratory reviewed the analytical procedure to detect subjective steps that may represent a risk to the patient. Two subjective activities were identified in the extra-analytical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5522c22bf40a2daaf34937fd14a4659b
https://doi.org/10.11613/bm.2022.030901
https://doi.org/10.11613/bm.2022.030901
Autor:
Mohan Naidu.K, Muralinath.E, Amrutham Sandeep, Vinayasree.C, Venkat Naveen.A, Guruprasad.M, Sravani Pragna.K
Phenylketonuria (PKU) is a genetic disorder with an incidence of approximately 1 in 10,000 to 15,000 births worldwide. Phenylketonuria is an inherited metabolic disorder manifested by the lack of ability to metabolize phenylalanine, an amino acid fou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29d4174770d360355bfb3334f8ac49c1
