Last Posted: Aug 06, 2020
- Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy.
Cavdarli Busranur et al. Genetic testing and molecular biomarkers 2020 Jul
- Targeted next generation sequencing for newborn screening of Menkes disease.
Parad Richard B et al. Molecular genetics and metabolism reports 2020 Sep 24100625
- Molecular Diagnosis of Inherited Immune Disorders.
Farmer Jocelyn R et al. Clinics in laboratory medicine 2019 39(4) 685-697
- A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Václavík Jan et al. JIMD reports 2020 Jul 54(1) 79-86
- Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.
Stroek Kevin et al. JIMD reports 2020 Jul 54(1) 68-78
- Identifying and overcoming barriers to harmonize newborn screening programs through consensus strategies.
González-Irazabal Yolanda et al. Critical reviews in clinical laboratory sciences 2020 Jul 1-20
- Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
Lin Yiming et al. Clinica chimica acta; international journal of clinical chemistry 2020 Jul
- The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.
Wenger David A et al. JIMD reports 2020 Jul 54(1) 61-67
- Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.
Pode-Shakked Naomi et al. The Journal of clinical endocrinology and metabolism 2019 104(8) 3172-3180
- Cystic fibrosis diagnosed by state newborn screening: Or is it?
Fox Maura et al. SAGE open medical case reports 2020 82050313X20939421
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