Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study
Ward, L. M, Rauch, F, Whyte, M. P, D'Astous, J, Gates, P. E, Grogan, D, Lester, E. L, McCall, R. E, Pressly, T. A, Sanders, J. O, Smith, P. A, Steiner, R. D, Sullivan, E, Tyerman, G, Smith-Wright, D. L, Verbruggen, N, Heyden, N, Lombardi, A, Glorieux, F. H
Published in The journal of clinical endocrinology and metabolism (01.02.2011)
Published in The journal of clinical endocrinology and metabolism (01.02.2011)
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Journal Article
Correlates of language impairment in children with galactosaemia
Potter, N. L., Lazarus, J.-A. C., Johnson, J. M., Steiner, R. D., Shriberg, L. D.
Published in Journal of inherited metabolic disease (01.08.2008)
Published in Journal of inherited metabolic disease (01.08.2008)
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Journal Article
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome
Hager, E. J, Tse, H. M, Piganelli, J. D, Gupta, M, Baetscher, M, Tse, T. E, Pappu, A. S, Steiner, R. D, Hoffmann, G. F, Gibson, K. M
Published in Journal of inherited metabolic disease (01.11.2007)
Published in Journal of inherited metabolic disease (01.11.2007)
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Journal Article
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
Correa-Cerro, L S, Wassif, C A, Waye, J S, Krakowiak, P A, Cozma, D, Dobson, N R, Levin, S W, Anadiotis, G, Steiner, R D, Krajewska-Walasek, M, Nowaczyk, M J M, Porter, F D
Published in Journal of medical genetics (01.04.2005)
Published in Journal of medical genetics (01.04.2005)
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Journal Article
Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency
Goldenberg, P C, Steiner, R D, Merkens, L S, Dunaway, T, Egan, R A, Zimmerman, E A, Nesbit, G, Robinson, B, Kennaway, N G
Published in Neurology (11.03.2003)
Published in Neurology (11.03.2003)
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M, Christiansen, Helena E, Hegde, Madhuri R, Bank, Ruud A, Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M, Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D, Steiner, Robert D, Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V Reid, Davis, Elaine C, Kim, Lammy S, Weis, Mary Ann, Eyre, David, Byers, Peter H
Published in Human molecular genetics (01.01.2013)
Published in Human molecular genetics (01.01.2013)
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Journal Article
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta
Bellur, S., Jain, M., Cuthbertson, D., Krakow, D., Shapiro, J.R., Steiner, R.D., Smith, P.A., Bober, M.B., Hart, T., Krischer, J., Mullins, M., Byers, P.H., Pepin, M., Durigova, M., Glorieux, F.H., Rauch, F., Sutton, V.R., Lee, B., Nagamani, S.C.
Published in Genetics in medicine (01.06.2016)
Published in Genetics in medicine (01.06.2016)
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Journal Article
Standard area diagram set for anthracnose severity on grapevine bunches and shoots
Modesto, L. R., Steiner, D. R. M., Menon, J. K., Nodari, R. O., Welter, L. J., da Silva, A. L.
Published in Australasian plant pathology (01.09.2020)
Published in Australasian plant pathology (01.09.2020)
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Journal Article
2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism
GIBSON, K. M, BURLINGAME, T. G, LINCK, L, POHOWALLA, P, SACKS, M, KISS, D, RINALDO, P, VOCKLEY, J, HOGEMA, B, JAKOBS, C, SCHUTGENS, R. B. H, MILLINGTON, D, ROE, C. R, ROE, D. S, SWEETMAN, L, STEINER, R. D
Published in Pediatric research (01.06.2000)
Published in Pediatric research (01.06.2000)
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Journal Article
A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers
Patel, R.M., Nagamani, S.C.S., Cuthbertson, D., Campeau, P.M., Krischer, J.P., Shapiro, J.R., Steiner, R.D., Smith, P.A., Bober, M.B., Byers, P.H., Pepin, M., Durigova, M., Glorieux, F.H., Rauch, F., Lee, B.H., Hart, T., Sutton, V.R.
Published in Clinical genetics (01.02.2015)
Published in Clinical genetics (01.02.2015)
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Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome
Linck, L M, Lin, D S, Flavell, D, Connor, W E, Steiner, R D
Published in American journal of medical genetics (28.08.2000)
Published in American journal of medical genetics (28.08.2000)
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Journal Article
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey
Mendelsohn, Nancy J., Harmatz, Paul, Bodamer, Olaf, Burton, Barbara K., Giugliani, Roberto, Jones, Simon A., Lampe, Christina, Malm, Gunilla, Steiner, Robert D., Parini, Rossella
Published in Genetics in medicine (01.12.2010)
Published in Genetics in medicine (01.12.2010)
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Journal Article
Research challenges in central nervous system manifestations of inborn errors of metabolism
Dickson, P.I., Pariser, A.R., Groft, S.C., Ishihara, R.W., McNeil, D.E., Tagle, D., Griebel, D.J., Kaler, S.G., Mink, J.W., Shapiro, E.G., Bjoraker, K.J., Krivitzky, L., Provenzale, J.M., Gropman, A., Orchard, P., Raymond, G., Cohen, B.H., Steiner, R.D., Goldkind, S.F., Nelson, R.M., Kakkis, E., Patterson, M.C.
Published in Molecular genetics and metabolism (01.03.2011)
Published in Molecular genetics and metabolism (01.03.2011)
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Journal Article
Black children deficient in galactose 1-phosphate uridyltransferase: Correlation of activity and immunoreactive protein in erythrocytes and leukocytes
Landt, Michael, Ritter, Detlef, Lai, Kent, Benke, Paul J., Elsas, Louis J., Steiner, Robert D.
Published in The Journal of pediatrics (01.06.1997)
Published in The Journal of pediatrics (01.06.1997)
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Journal Article
Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosis
Steiner, R. D., Whyte, M. P., Chang, E., Hanks, J., Mattes, C., Senephansiri, H., Gibson, K. M.
Published in Journal of inherited metabolic disease (01.02.2000)
Published in Journal of inherited metabolic disease (01.02.2000)
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Journal Article