| Citation | Internationally distinguished for his major contributions to the diagnosis, treatment, and underlying pathology of human inherited metabolic disease, and, in some cases, of their analogues in mice.
He has made a particular study of the kidney, especially the phosphate transport underlying hypophosphataemia in man and mouse, and this has greatly improved diagnosis and treatment.
His major studies include:
(a) Defects in transepithelial amino acid transport.
(b) The pathogenesis and treatment of X-linked hypophosphataemic rickets.
(c) Inborn errors of amino acid metabolism.
His laboratory has made major contributions to the discovery of many genetic diseases, including hyperprolinaemia type I, alpha-methylaceto-aceticaciduria, pseudohypophosphatasia, adolescent cystinosis, hypophosphataemic non-rachitic bone disease, hyper-beta-alaninemia and carnosinaemia. He was a pioneer in the prenatal screening of neonatal metabolic disorders in which Montreal is a leading centre. He continues to exert a major influence on the development of human genetics in Canada. |