Theda, Christiane

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 239

Phospholipids in X-linked adrenoleukodystrophy white matter: Fatty acid abnormalities before the onset of demyelination

Theda, C., Moser, A. B., Powers, J. M., & Moser, H. W. (1992) · Journal of the Neurological Sciences

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 99

Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

Theda, C., Gibbons, K., DeFor, T. E., Donohue, P. K., Golden, W. C., Kline, A. D., Gulamali-Majid, F., Panny, S. R., Hubbard, W. C., Jones, R. O., et al. (2014) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 56

Increased very long chain fatty acids in patients on a ketogenic diet: A cause of diagnostic confusion

Theda, C., Woody, R. C., Naidu, S., Moser, A. B., & Moser, H. W. (1993) · The Journal of Pediatrics

Metabolism and Genetic DisordersDiet and metabolism studies

Cited by 44

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care.

Stark, Z., Nisselle, A., McClaren, B., Lynch, F., Best, S., Long, J. C., Martyn, M., Patel, C., Schlapbach, L. J., Barnett, C., et al. (2019) · European Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 43