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Journal of Inherited Metabolic Disease|November 17, 2007
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndromeE J Hager, H M Tse, J D Piganelli, et al.
Human Molecular Genetics|March 7, 2001
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndromeC A Wassif, P Zhu, L Kratz, et al.
Prenatal Diagnosis|March 17, 2000
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villiL M Linck, S J Hayflick, D S Lin, et al.
Pediatric Research|June 1, 2000
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolismK M Gibson, T G Burlingame, B Hogema, et al.
Clinical Genetics|April 24, 2014
A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centersR M Patel, S C S Nagamani, D Cuthbertson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2015
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfectaS Bellur, M Jain, D Cuthbertson, et al.
The Journal of Clinical Endocrinology and Metabolism|November 26, 2010
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled studyL M Ward, F Rauch, M P Whyte, et al.
Molecular Genetics and Metabolism|December 24, 2010
Research challenges in central nervous system manifestations of inborn errors of metabolismP I Dickson, A R Pariser, S C Groft, et al.
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