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Lancet (London, England)|January 19, 1991
Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney diseaseD Ravine, R G Walker, R N Gibson, et al.Acta Neuropathologica|January 1, 1989
Striatal degeneration in glutaric acidaemia type IIC W Chow, F E Frerman, S I Goodman, et al.Journal of Inherited Metabolic Disease|January 1, 1992
X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutationH H Dahl, L L Hansen, R M Brown, et al.Biomedical Mass Spectrometry|October 1, 1979
Abnormal deoxyribose metabolites in the urine of a child with a possible new inborn error of metabolismR J Truscott, B Halpern, J Hammond, et al.American Journal of Medical Genetics|July 15, 1994
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22A J Donnelly, K H Choo, H M Kozman, et al.Human Genetics|June 1, 1991
The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)]L Hills, E Earle, M Wilson, et al.Pediatric Research|May 1, 1977
Metabolic studies on two patients with nonhepatic tyrosinemia using deuterated tyrosine loadsK F Faull, I Gan, B Halpern, et al.Lancet (London, England)|August 31, 1991
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cardsY Matsubara, K Narisawa, K Tada, et al.American Journal of Medical Genetics|March 25, 1998
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patientsJ Christodoulou, D M Danks, B Sarkar, et al.Biological Trace Element Research|November 26, 2013
Failure to confirm abnormal copper utilization in crinkler (cr) miceJ R Mann, J Camakaris, J M Gillespie, et al.Pageof 17