Last Posted: Oct 24, 2019
- New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
Wang Benjing et al. Frontiers in genetics 2019 10811
- Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rovelli Valentina et al. Molecular genetics and metabolism 2019 Apr
- Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes.
Bleeker Jeannette C et al. Journal of inherited metabolic disease 2019 Feb
- Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Kang Eungu et al. BMC pediatrics 2018 Mar 18(1) 103
- Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Pena Loren D M et al. Molecular genetics and metabolism 2016 Aug 118(4) 272-81
- Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.
Merinero B et al. JIMD reports 2017 Jul
- VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
Evans Maureen et al. Molecular genetics and metabolism 2016 May
- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
Diekman Eugene et al. JIMD reports 2015 Oct
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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