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3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.
Gibson KM, Bennett MJ, Naylor EW, Morton DH. Gibson KM, et al. J Pediatr. 1998 Mar;132(3 Pt 1):519-23. doi: 10.1016/s0022-3476(98)70032-0. J Pediatr. 1998. PMID: 9544913
Late-onset holocarboxylase synthetase deficiency.
Gibson KM, Bennett MJ, Nyhan WL, Mize CE. Gibson KM, et al. J Inherit Metab Dis. 1996;19(6):739-42. doi: 10.1007/BF01799165. J Inherit Metab Dis. 1996. PMID: 8982946
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.
Bennett MJ, Gibson KM, Sherwood WG, Divry P, Rolland MO, Elpeleg ON, Rinaldo P, Jakobs C. Bennett MJ, et al. J Inherit Metab Dis. 1993;16(5):831-6. doi: 10.1007/BF00714274. J Inherit Metab Dis. 1993. PMID: 8295397
Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?
Gibson KM, Lee CF, Bennett MJ, Holmes B, Nyhan WL. Gibson KM, et al. J Inherit Metab Dis. 1993;16(3):563-7. doi: 10.1007/BF00711682. J Inherit Metab Dis. 1993. PMID: 7609453 No abstract available.
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.
Gibson KM, Bennett MJ, Mize CE, Jakobs C, Rotig A, Munnich A, Lichter-Konecki U, Trefz FK. Gibson KM, et al. J Pediatr. 1992 Dec;121(6):940-2. doi: 10.1016/s0022-3476(05)80348-8. J Pediatr. 1992. PMID: 1447663
Medium chain acyl-coenzyme A dehydrogenase deficiency.
Bennett MJ, Hale DE. Bennett MJ, et al. N J Med. 1992 Sep;89(9):675-8. N J Med. 1992. PMID: 1436730 Review.
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