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Molecular Genetics and Metabolism|February 13, 2001
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patientsT Fukao, C R Scriver, N Kondo, et al.American Journal of Human Genetics|February 1, 1995
Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparisonE Treacy, B Childs, C R ScriverAmerican Journal of Medical Genetics|November 1, 1984
Genetic causes of chronic musculoskeletal disease in childhood are commonD Gregory, P Kaplan, C R ScriverHuman Mutation|May 25, 1999
Guidelines and recommendations for content, structure, and deployment of mutation databasesC R Scriver, P M Nowacki, H LehväslaihoCanadian Journal of Physiology and Pharmacology|May 1, 1980
Tubular reabsorption of alpha-aminoisobutyric acid in the pre-steady-state. Evidence for a cell-to-lumen fluxR R McInnes, F Mohyuddin, C R ScriverConnective Tissue Research|January 1, 1983
Secreted collagen ratios in normal human and osteogenesis imperfecta skin fibroblastsJ Fraser, G A Lancaster, C R ScriverHuman Genetics|December 1, 1988
Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytesD W Smith, C R Scriver, O SimellProceedings of the National Academy of Sciences of the United States of America|April 1, 1975
Role of epithelial architecture and intracellular metabolism in proline uptake and transtubular reclamation in PRO/re mouse kidneyC R Scriver, R R McInnes, F MohyuddinClinica Chimica Acta; International Journal of Clinical Chemistry|March 26, 1982
Inorganic sulfate in cerebrospinal fluid from infants and childrenD E Cole, J Shafai, C R ScriverPediatric Research|August 1, 1982
Neonatal iminoglycinuria: evidence that the prolinuria originates in selective deficiency of transport activity in the proximal nephronC R Scriver, M F Arthus, M BergeronPageof 18