Results 31 to 40 of about 148,879 (306)

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency

Molecular Genetics & Genomic Medicine, 2021
Background Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland.
Yao Chen, Qingying Lin, Yinglin Zeng, Xiaolong Qiu, Guanghua Liu, Wenbin Zhu   +5 more
doaj   +1 more source

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS. [PDF]

Int J Neonatal Screen
The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs).
Gonçalves MM, Marcão A, Sousa C, Nogueira C, Fonseca H, Rocha H, Vilarinho L.   +6 more
europepmc   +2 more sources

Neonatal screening

The Turkish Journal of Pediatrics, 2003
Neonatal screening (NS) is a medical act in the context of preventive medicine aimed at the early identification of infants affected by certain conditions that threaten their life and long-term health, for which a timely intervention can lead to a significant reduction of morbidity, mortality and associated disabilities.
openaire   +3 more sources

Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening-Towards a Consistent Definition and Data Acquisition [PDF]

, 2023
Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison.
European CF Society Neonatal Screening Working Group (ECFS NSWG)
core  

Maternal and neonatal outcomes in women with preeclampsia screening program at primary healthcare centers in Indonesia [PDF]

, 2020
Preeclampsia can cause increased neonatal mortality and serious neonatal morbidity. This study aimed to analyze the result of the preeclampsia screening program to the maternal and neonatal outcome at primary healthcare centers.
Eka Dina, -, Agus Sulistyono, -, Aditiawarman, -, Hermanto Tri Joewono, -   +3 more
core  

Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Molecular Genetics & Genomic Medicine, 2020
Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL).
Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu   +6 more
doaj   +1 more source

Neonatal screening [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Educational Items on Neonatal screening.
Dallaire, L, Huret, JL
openaire   +2 more sources

Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation

Translational Psychiatry, 2023
Large deletions at chromosome 22q11.2 are known to cause severe clinical conditions collectively known as 22q11.2 deletion syndrome. Notwithstanding the pathogenicity of these deletions, affected individuals are typically diagnosed in late childhood or ...
Julie Courraud, Francesco Russo, Gonçalo Espregueira Themudo, Susan Svane Laursen, Andrés Ingason, David M. Hougaard, Arieh S. Cohen, Thomas Werge, Madeleine Ernst   +8 more
doaj   +1 more source

Low incidence of toxoplasma infection during pregnancy and in newborns in Sweden [PDF]

, 2001
To estimate the burden of disease due to congenital toxoplasmosis in Sweden the incidence of primary infections during pregnancy and birth prevalence of congenital toxoplasmosis in 40978 children born in two regions in Sweden was determined.
Petersson, K, Wiklund, Sven,, Gilbert, R, Tear-Fahnehjelm, K, Wiklund, S, Evengard, B, Engman, ML, Malm, G, Wiklund, Sven, Forsgren, M, Pettersson, K, Lund University., Ivarsson, SA   +12 more
core   +1 more source

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

BMC Medical Genetics, 2018
Background Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients.
Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu   +3 more
doaj   +1 more source