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The Journal of Clinical Endocrinology and Metabolism|March 1, 1981
X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralizationT Costa, P J Marie, C R Scriver, et al.Pediatric Neurology|October 1, 1994
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiencyM I Shevell, P M Matthews, C R Scriver, et al.Journal of Inherited Metabolic Disease|January 1, 1992
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4')D Chitayat, J Chemke, K M Gibson, et al.CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|May 1, 1987
Feasibility of chemical screening of urine for neuroblastoma case finding in infancy in QuebecC R Scriver, D Gregory, M Bernstein, et al.Neuropediatrics|November 11, 2008
Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRIN Brunetti-Pierri, K Selby, M O'Sullivan, et al.Brain : a Journal of Neurology|June 1, 1994
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patientsP M Matthews, R M Brown, L J Otero, et al.Diabetic Medicine : a Journal of the British Diabetic Association|August 1, 1995
Decreased sialidase activity in mononuclear leucocytes of type 1 diabetic subjects: relationship to diabetic complications and glycaemic controlP J Waters, M D Flynn, C A Pennock, et al.American Journal of Human Genetics|January 1, 1995
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in EuropeansR C Eisensmith, A A Goltsov, C O'Neill, et al.Neuropediatrics|July 4, 2007
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathyS N Basheer, P J Waters, C W Lam, et al.European Journal of Human Genetics : EJHG|January 1, 1993
A Pst+ polymorphism in the HEXA gene with an unusual geographic distributionF Kaplan, S Kapoor, D Lee, et al.Pageof 19