Results 1 to 10 of about 1,606,043 (303)

Neonatal screening for cystic fibrosis. [PDF]

Archives of Disease in Childhood, 1988
Two groups of patients with cystic fibrosis were compared. The screened group, detected with an improved neonatal screening assay for immunoreactive trypsin, developed fewer chest infections requiring treatment and gained more weight than the unscreened group. Early diagnosis by screening seems to affect early morbidity.
Bowling, F., Cleghorn, G.J., Chester, A., Curran, J., Griffin, B., Prado, J., Francis, P., Shepherd, R.   +7 more
openaire   +6 more sources

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis

Orphanet Journal of Rare Diseases
Background Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive organic acidaemia. This paper aimed to describe the clinical, biochemical and molecular features of four Chinese patients with HLCS deficiency, and to research the novel ...
Zhenzhu Zheng, Weilin Peng, Yiming Lin, Weihua Lin, Gaoxiong Wang   +4 more
doaj   +1 more source

Reduced glutathione and glutathione disulfide in the blood of glucose-6-phosphate dehydrogenase-deficient newborns

BMC Pediatrics, 2017
Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly detected during mass screening for neonatal disease. We developed a method to measure reduced glutathione (GSH) and glutathione disulfide (GSSG) using tandem mass spectrometry (MS/
Zhen-hua Gong, Guo-li Tian, Qi-wei Huang, Yan-min Wang, Hong-ping Xu   +4 more
doaj   +1 more source

Maternal pre-pregnancy and prenatal penicillin, neonatal inflammation and growth factors are associated to ADHD in the offspring

Brain, Behavior, & Immunity - Health
Background: The etiology for Attention Deficit Hyperactivity Disorder (ADHD) is generally unknown, but both genetics, biology and environment have been shown to increase the risk.
Solveig Holmgaard, Pia Kiilerich, Nis Borbye-Lorenzen, Kristin Skogstrand   +3 more
doaj   +1 more source

Neonatal screening [PDF]

Journal of Tropical Pediatrics, 2014
Seema Kapoor, Manisha Goyal
openaire   +3 more sources

Analysis of epidemiological characteristics and associated factors of congenital hypothyroidism in Henan Province

Scientific Reports
To investigate the epidemiological characteristics and associated risk factors of congenital hypothyroidism (CH) among newborns in Henan Province. A case-control study design was adopted. Children diagnosed with CH from January 1,2016 to December 31,2017
Chunwei Luo, Suna Liu, Shubo Lv
doaj   +1 more source

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

International Journal of Neonatal Screening
This Abstract Book contains abstracts of oral and poster presentations of the 13th ISNS European Regional Meeting in Luxembourg, held from 23 to 26 March 2025.
Kate Hall, Peter C. J. I. Schielen, Dimitris Platis   +2 more
doaj   +1 more source

Correction: Hall et al. Oral and Poster Abstracts of the 13th ISNS European Regional Meeting. Int. J. Neonatal Screen. 2025, 11, 21

International Journal of Neonatal Screening
The authors wish to make the following correction to their paper published in the International Journal of Neonatal Screening [...]
Kate Hall, Peter C. J. I. Schielen, Dimitris Platis   +2 more
doaj   +1 more source

Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review

Frontiers in Endocrinology
BackgroundCytochrome P450 oxidoreductase deficiency (PORD) is an ultra-rare autosomal recessive disorder within the congenital adrenal hyperplasia (CAH) spectrum, characterized by a broad clinical spectrum involving steroidogenesis defects, genital ...
Wenting Zhang, Wenting Zhang, Wenting Zhang, Junfeng Zeng, Junfeng Zeng, Yanjin Li, Yanjin Li, Cailian Xie, Cailian Xie, Zhihao Sun, Zhihao Sun, Guizhen Lyu, Tizhen Yan, Tizhen Yan, Tizhen Yan, Xiaoling Huang, Xiaoling Huang   +16 more
doaj   +1 more source

Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia

International Journal of Neonatal Screening, 2017
The incidence of congenital hypothyroidism (CH) is increasing in different areas around the world. Potential causes include changes in population ethnic composition, environmental factors, changing screening program methodology and lowering of TSH cutoff
Violeta Anastasovska, Elena Sukarova-Angelovska, Milica Pesevska, Elizabeta Taseva, Mirjana Kocova   +4 more
doaj   +1 more source