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Robin Casey

University of Saskatchewan

8

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513

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Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

1999 Nature Genetics
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Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies

1998 Pediatric Neurology
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Early treatment of Menkes disease with parenteral Cooper‐Histidine: Long‐term follow‐up of four treated patients

1998 American Journal of Medical Genetics
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Mortality in foetal alcohol syndrome

1997 Canadian Journal of Public Health-revue Canadienne De Sante Publique
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LIVER ABNORMALITIES IN THREE PATIENTS WITH FETAL ALCOHOL SYNDROME

1979 The Lancet
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Difficulties and pitfalls in the interpretation of screening tests for the detection of inborn errors of metabolism

1976 Clinica Chimica Acta
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Citations (22)