Barry Lewis
Pathwest Laboratory Medicine(AU)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Folate and B Vitamins Research, Neonatal Health and Biochemistry, Amino Acid Enzymes and Metabolism
Most-Cited Works
- → Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years(2009)165 cited
- → Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited
- → Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience(1994)89 cited
- → Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus(2020)68 cited
- → Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism(2005)60 cited
- → Mutation analysis of 28 Gaucher disease patients: The Australasian experience(1994)31 cited
- → Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency(2020)18 cited
- → Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period(2012)17 cited
- → COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis(2016)16 cited
- → Silver Russel syndrome in an aboriginal patient from Australia(2018)16 cited