Results 31 to 40 of about 258,128 (359)

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.
Engman, ML, Evengard, B, Forsgren, M, Gilbert, R, Ivarsson, SA, Malm, G, Petersson, K, Tear-Fahnehjelm, K, Wiklund, S   +8 more
core   +2 more sources

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

Ocular sequelae of congenital toxoplasmosis in Brazil compared with Europe [PDF]

, 2008
Toxoplasmic retinochoroiditis appears to be more severe in Brazil, where it is a leading cause of blindness, than in Europe, but direct comparisons are lacking.
Bahia-Oliveira, LM, Buffolano, W, European Multicentre Study on Congenital Toxoplasmosis (EMSCOT),, Freeman, K, Gilbert, RE, Lago, EG, Petersen, E, Stanford, MR, Tan, HK, Wallon, M   +9 more
core   +3 more sources

Reliability of Neonatal Screening Results [PDF]

International Journal of Neonatal Screening, 2018
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Maria Knapkova, Kate Hall, Gerard Loeber
openaire   +4 more sources

Invasive Obstetric Procedures and Cesarean Sections in Women With Known Herpes Simplex Virus Status During Pregnancy. [PDF]

, 2017
BackgroundNeonatal herpes is a potentially devastating infection that results from acquisition of herpes simplex virus (HSV) type 1 or 2 from the maternal genital tract at the time of vaginal delivery.
Drolette, Linda, Gardella, Carolyn, Laschansky, Ellen, Magaret, Amalia S, Moss, Nicholas J, Selke, Stacey, Stankiewicz Karita, Helen C, Wald, Anna   +7 more
core   +1 more source

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

Sensitive and Robust LC-MS/MS Assay to Quantify 25-Hydroxyvitamin D in Leftover Protein Extract from Dried Blood Spots

International Journal of Neonatal Screening, 2021
Neonatal dried blood spots (DBS) provide a remarkable resource for biobanks. These microsamples can provide information related to the genetic correlates of disease and can be used to quantify a range of analytes, such as proteins and small molecules ...
Sanne Grundvad Boelt, Lars Melgaard, Marta Jadwiga Thorbek, Nadia Sara Jensen MacSween, John J. McGrath, Arieh S. Cohen   +5 more
doaj   +1 more source

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

Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years [PDF]

, 2010
Purpose : The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient ...
Blom, Burtis, Chamberlin, Chamberlin, Chamberlin, Chien, Choi, Choi, Dong Hwan Lee, Gaull, Gaull, Gaull, Harvey Mudd, Kim, Labrune, Lee, Lee, Lee, Mudd, Mudd, Mudd, Nagao, Ohura, Se Jung Oh, Sturman, Ubagai, Yong Hee Hong, Yong Wha Lee   +27 more
core   +1 more source

Congenital hypothyroidism after newborn screening program reorganization in the Apulia region

Italian Journal of Pediatrics, 2022
Background Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder. The purpose of the present study was to evaluate the incidence and etiological classification of CH in Apulia in a three-year period according to the ...
Simonetta Simonetti, Gabriele D’Amato, Benedetta Esposito, Mariangela Chiarito, Domenico Dentico, Tania Lorè, Roberta Cardinali, Silvia Russo, Nicola Laforgia, Maria Felicia Faienza   +9 more
doaj   +1 more source