Newborn screening [NEW TOPIC PAGE]

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From HuGE Literature Finder Database

This database contains published literature on genetic associations and other human genome epidemiology

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• Polymorphisms in urea cycle enzyme genes are associated with persistent pulmonary hypertension of the newborn.  
  Pediatric research 2017 Jun .
  Kaluarachchi Dinushan C, Smith Caitlin J, Klein Jonathan M, Murray Jeffrey C, Dagle John M, Ryckman Kelli
• Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.  
  Journal of the Chinese Medical Association : JCMA 2017 Mar .
  Tsai Fang-Chih, Lee Han-Jui, Wang An-Guor, Hsieh Shu-Chen, Lu Yung-Hsiu, Lee Ming-Che, Pai Ju-Shan, Chu Tzu-Hung, Yang Chia-Feng, Hsu Ting-Rong, Lai Chih-Jou, Tsai Ming-Tzu, Ho Ping-Hsun, Lin Min-Chieh, Cheng Ling-Yee, Chuang Ya-Chin, Niu Dau-Mi
• Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.  
  Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2017 Feb .
  Bosch Barbara, Bilton Diana, Sosnay Patrick, Raraigh Karen S, Mak Denise Y F, Ishiguro Hiroshi, Gulmans Vincent, Thomas Muriel, Cuppens Harry, Amaral Margarida, De Boeck Kr
• Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.  
  Journal of human genetics 2016 Dec .
  Couce María L, Aldamiz-Echevarría Luís, Bueno María A, Barros Patricia, Belanger-Quintana Amaya, Blasco Javier, García-Silva María-Teresa, Márquez-Armenteros Ana M, Vitoria Isidro, Vives Inmaculada, Navarrete Rosa, Fernández-Marmiesse Ana, Pérez Belén, Pérez-Cerdá Cel
• A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.  
  Annals of laboratory medicine 2016 Nov 36 (6): 561-72.
  Park Kyoung Jin, Park Seungman, Lee Eunhee, Park Jong Ho, Park June Hee, Park Hyung Doo, Lee Soo Youn, Kim Jong W

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