Last Posted: Aug 01, 2019
- Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Trefz K F et al. Orphanet journal of rare diseases 2019 Jul 14(1) 181 - The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.
Su Yajie et al. Annals of translational medicine 2019 Jun 7(12) 258 - Early Check: translational science at the intersection of public health and newborn screening.
Bailey Donald B et al. BMC pediatrics 2019 Jul 19(1) 238 - Positive Newborn Screening for Cystic Fibrosis, What to Do Next?
Kumar Prawin et al. Indian journal of pediatrics 2019 Jul - The Importance of Assay Imprecision near the Screen Cutoff for Newborn Screening of Lysosomal Storage Diseases.
Robinson Bruce H et al. International journal of neonatal screening 2019 Jun 5(2) - Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
Shaik Muntaj et al. Indian journal of pediatrics 2019 Jul - Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses.
Wu En-Ting et al. Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2019 Jul - Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature.
Unim Brigid et al. Frontiers in genetics 2019 10552 - False-negative newborn screening result for immunoreactive trypsinogen: a major problem in children with chronic lung disease.
Lumertz Magali Santos et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2019 Jun 45(3) e20180062 - Navigating Newborn Screening in the NICU: A User's Guide.
Kronn David et al. NeoReviews 2019 May 20(5) e280-e291
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