A new face for an old syndromeKELLEY, R. I.American journal of medical genetics. 1997, Vol 68, Num 3, pp 251-256, issn 0148-7299Conference Paper

Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluidKELLEY, R. I.Journal of inherited metabolic disease. 1993, Vol 16, Num 5, pp 918-919, issn 0141-8955Article

Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometryKELLEY, R. I.Clinica chimica acta. 1993, Vol 220, Num 2, pp 157-164, issn 0009-8981Article

Beta-oxidation of long-chain fatty acids by human fibroblasts : evidence for a novel long-chain acyl-coenzyme a dehydrogenaseKELLEY, R. I.Biochemical and biophysical research communications (Print). 1992, Vol 182, Num 3, pp 1002-1007, issn 0006-291XArticle

Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspectsKELLEY, R. I.American journal of medical genetics. 1983, Vol 16, Num 4, pp 503-517, issn 0148-7299Article

Association of Turner syndrome with hypoplastic left-heart syndromeNATOWICZ, M; KELLEY, R. I.American journal of diseases of children (1960). 1987, Vol 141, Num 2, pp 218-220, issn 0002-922XArticle

Mendelian etiologies of strokeNATOWICZ, M; KELLEY, R. I.Annals of neurology. 1987, Vol 22, Num 2, pp 175-192, issn 0364-5134Article

Inherited disorders of cholesterol biosynthesisHAAS, Dorothea; KELLEY, R. I; HOFFMANN, G. F et al.Neuropediatrics. 2001, Vol 32, Num 3, pp 113-122, issn 0174-304XArticle

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndromeKRATZ, L. E; KELLEY, R. I.American journal of medical genetics. 1999, Vol 82, Num 5, pp 376-381, issn 0148-7299Article

Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometryKELLEY, R. I; STAMAS, J. N.Journal of inherited metabolic disease. 1992, Vol 15, Num 1, pp 97-104, issn 0141-8955Article

Increased sensitivity of cerebrohepatorenal syndrome fibroblasts to antimycin AKELLEY, R. I; CORKEY, B. E.Journal of inherited metabolic disease. 1983, Vol 6, Num 4, pp 158-162, issn 0141-8955Article

Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes: studies of normal and mutant enzymesKELLEY, R. I; FEINBERG, D. M; SEGAL, S et al.Human genetics. 1989, Vol 82, Num 2, pp 99-103, issn 0340-6717Article

Dicarboxylic aciduria in an infant with spinal muscular atrophyKELLEY, R. I; SLADKY, J. T.Annals of neurology. 1986, Vol 20, Num 6, pp 734-736, issn 0364-5134Article

3-Hydroxyoctanoic aciduria: identification of a new organic acid in the urine of a patient with non-ketotic hypoglycemiaKELLEY, R. I; MORTON, D. H.Clinica chimica acta. 1988, Vol 175, Num 1, pp 19-26, issn 0009-8981, 8 p.Article

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndromeWITSCH-BAUMGARTNER, M; GRUBER, M; KRAFT, H. G et al.Journal of medical genetics. 2004, Vol 41, Num 8, pp 577-584, issn 0022-2593, 8 p.Article

Mutations in a Δ⁸-Δ⁷ sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctataDERRY, J. M. J; GORMALLY, E; MEANS, G. D et al.Nature genetics. 1999, Vol 22, Num 3, pp 286-290, issn 1061-4036Article

Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetusBICK, D. P; MCCORKLE, D; STANLEY, W. S et al.Prenatal diagnosis. 1999, Vol 19, Num 1, pp 68-71, issn 0197-3851Article

Smith-Lemli-Opitz syndrome : prenatal diagnosis by quantification of cholesterol precursors in amniotic fluidPRATT ROSSITER, J; HOFMAN, K. J; KELLEY, R. I et al.American journal of medical genetics. 1995, Vol 56, Num 3, pp 272-275, issn 0148-7299Article

Hypoglycemia due to surreptitious injection of insulin : identification of insulin species by high-performance liquid chromatographyGIVEN, B. D; OSTREGA, D. M; POLONSKY, K. S et al.Diabetes care. 1991, Vol 14, Num 7, pp 544-547, issn 0149-5992Article

Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndromeCORKEY, B. E; HALE, D. E; GLENNON, M. C et al.The Journal of clinical investigation. 1988, Vol 82, Num 3, pp 782-788, issn 0021-9738, 7 p.Article

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromesKELLEY, R. I; DATTA, N. S; DOBYNS, W. B et al.American journal of medical genetics. 1986, Vol 23, Num 4, pp 869-901, issn 0148-7299Article

Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chainKENNAWAY, N. G; BUIST, R. M. N; DARLEY-USMAR, V. M et al.Pediatric research. 1984, Vol 18, Num 10, pp 991-999, issn 0031-3998Article

Mutational spectrum in the Δ7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndromeWITSCH-BAUMGARTNER, M; FITZKY, B. U; KELLEY, R. I et al.American journal of human genetics. 2000, Vol 66, Num 2, pp 402-412, issn 0002-9297Article

Biochemical variants of Smith-Lemli-Opitz syndromeNEKLASON, D. W; ANDREWS, K. M; KELLEY, R. I et al.American journal of medical genetics. 1999, Vol 85, Num 5, pp 517-523, issn 0148-7299Article

Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy : Observations in distinguishing genetic-metabolic from acquired causesHOON, A. H; REINHARDT, M; KELLEY, R. I et al.The Journal of pediatrics. 1997, Vol 131, Num 2, pp 240-245, issn 0022-3476Article