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Molecular Genetics and Metabolism|July 29, 2009
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screeningC Ficicioglu, R Mandell, V E ShihThe Journal of Clinical Investigation|July 1, 1976
Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defectsK Tanaka, R Mandell, V E ShihClinica Chimica Acta; International Journal of Clinical Chemistry|February 5, 1982
Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuriaV E Shih, R Mandell, A HerzfeldAmerican Journal of Human Genetics|December 1, 1988
Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retinaV E Shih, R Mandell, E L BersonClinical Genetics|May 1, 1975
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disordersV E Shih, R Mandell, H L Levy, et al.Biochemical Medicine and Metabolic Biology|August 1, 1988
Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidaseJ L Johnson, M M Wuebbens, R Mandell, et al.The Journal of Clinical Investigation|March 1, 1989
Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursorJ L Johnson, M M Wuebbens, R Mandell, et al.American Journal of Human Genetics|March 1, 1978
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retinaV E Shih, E L Berson, R Mandell, et al.Neurology|January 29, 2003
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiencyP J Kelly, K L Furie, J P Kistler, et al.Prenatal Diagnosis|May 1, 1996
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemiaR Mandell, S Packman, R Laframboise, et al.Pageof 10