Ornithine Transcarbamylase Deficiency
Last Posted: Nov 03, 2020
- Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.
Vasquez-Loarte Tania et al. International journal of neonatal screening 2020 Oct 6(4)
- Reducing False-Positive Results in Newborn Screening Using Machine Learning.
Peng Gang et al. International journal of neonatal screening 2020 Mar 6(1)
- Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Posset Roland et al. Journal of inherited metabolic disease 2019 Jan 42(1) 93-106
- CLINGEN Actionability Report for Ornithine Transcarbamylase Deficiency-OTC
ClinGen Actionability Working Group
- Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.
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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