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6 results on '"Mowat, David R"'

2. WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

Author

Waddell, Leigh B., primary, Bryen, Samantha J., additional, Cummings, Beryl B., additional, Bournazos, Adam, additional, Evesson, Frances J., additional, Joshi, Himanshu, additional, Marshall, Jamie L., additional, Tukiainen, Taru, additional, Valkanas, Elise, additional, Weisburd, Ben, additional, Sadedin, Simon, additional, Davis, Mark R., additional, Faiz, Fathimath, additional, Gooding, Rebecca, additional, Sandaradura, Sarah A., additional, O'Grady, Gina L., additional, Tchan, Michel C., additional, Mowat, David R., additional, Oates, Emily C., additional, Farrar, Michelle A., additional, Sampaio, Hugo, additional, Ma, Alan, additional, Neas, Katherine, additional, Wang, Min-Xia, additional, Charlton, Amanda, additional, Chan, Charles, additional, Kenwright, Diane N., additional, Graf, Nicole, additional, Arbuckle, Susan, additional, Clarke, Nigel F., additional, MacArthur, Daniel G., additional, Jones, Kristi J., additional, Lek, Monkol, additional, and Cooper, Sandra T., additional

Published
2021
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3. Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

Author

Jones, Hannah F, primary, Bryen, Samantha J, additional, Waddell, Leigh B, additional, Bournazos, Adam, additional, Davis, Mark, additional, Farrar, Michelle A, additional, McLean, Catriona A, additional, Mowat, David R, additional, Sampaio, Hugo, additional, Woodcock, Ian R, additional, Ryan, Monique M, additional, Jones, Kristi J, additional, and Cooper, Sandra T, additional

Published
2019
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5. Maternal phenylketonuria: a continuing problem

Author

Mowat, David R., Hayden, Malcolm, Thompson, Susan M., and Wilcken, Bridget

Subjects
Phenylketonuria -- Complications, Genetic disorders -- Research, Maternal-fetal exchange -- Research, Pregnancy, Complications of -- Research, Health
Abstract

A study in Australia has shown that an urgent need exists for better follow-up of women with phenylketonuria PKU and for education of health professionals about the maternal PKU syndrome and benefits of dietary treatment. The study was intended to estimate the number of women of childbearing age in NSW whose children are at risk because of MPKU. PKU inheritance is autosomal recessive and the disorder is a metabolic one which results in raised levels of phenylalanine unless a special diet is followed. It appears that those on the PKU diet should continue on it to prevent neurological impairment in adulthood, and in pregnancy it is essential. The syndrome involves several defects in the infant. Between 3% and 20% of women with untreated PKU do not have significant or severe intellectual disability.

Published
1999

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