Last Posted: Oct 05, 2018
- Putting genome-wide sequencing in neonates into perspective
E van der Sluijs et al, Genetics in Medicine, October 4, 2018 - Clinical outcomes in U.S. infants with cystic fibrosis from 2001 to 2012.
Hoch Heather et al. Pediatric pulmonology 2018 Sep - Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening.
Liao Hsuan-Chieh et al. The Journal of pediatrics 2018 Sep - Duchenne Muscular Dystrophy Care Considerations
CDC, September 2018 - Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study).
Audrain Marie A P et al. Journal of clinical immunology 2018 Sep - Reliability of the current newborn screening action value for beta thalassaemia disease detection in England: A prospective study.
Daniel Yvonne et al. Journal of medical screening 2018 Sep 969141318797373 - The impact of consanguinity on the frequency of inborn errors of metabolism.
Afzal Raja Majid et al. Danish medical journal 2018 Oct 65(10) - Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.
Liu Shih-Yao et al. Journal of the Formosan Medical Association = Taiwan yi zhi 2018 Feb 117(2) 126-131 - Diagnosis of citrullinemia type 1 carriage after identification of mild citrullinemia on neonatal screening.
Sugawara Daisuke et al. Pediatrics international : official journal of the Japan Pediatric Society 2018 Apr 60(4) 383-384 - International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Parini Rossella et al. Acta paediatrica (Oslo, Norway : 1992) 2018 Sep
.png)
No hay comentarios:
Publicar un comentario