Robin Casey
University of Calgary(CA)Alberta Children's Hospital(CA)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Trypanosoma species research and implications, Trace Elements in Health, Peroxisome Proliferator-Activated Receptors
Most-Cited Works
- → Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter(1999)205 cited
- → Early treatment of Menkes disease with parenteral Cooper-Histidine: Long-term follow-up of four treated patients(1998)118 cited
- → How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?(2010)100 cited
- → Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update(2009)87 cited
- → Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders(2002)85 cited
- → Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome(1999)74 cited