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Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.
Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JA, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JP, Ketteridge D, Wasserstein M, Gibson KM. Salomons GS, et al. Among authors: gavrilov d. J Inherit Metab Dis. 2007 Feb;30(1):23-8. doi: 10.1007/s10545-006-0514-6. Epub 2006 Dec 20. J Inherit Metab Dis. 2007. PMID: 17186413
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.
Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM. Bonilla Guerrero R, et al. Among authors: gavrilov d. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S453-6. doi: 10.1007/s10545-008-1039-y. Epub 2008 Dec 16. J Inherit Metab Dis. 2008. PMID: 19089597
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S. Smith EH, et al. Among authors: gavrilov dk. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6. Epub 2010 Sep 4. J Inherit Metab Dis. 2010. PMID: 20821052
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Chapel-Crespo C, Gavrilov D, Sowa M, Myers J, Day-Salvatore DL, Lynn H, Regier D, Starin D, Steenari M, Schoonderwoerd K, Abdenur JE. Chapel-Crespo C, et al. Among authors: gavrilov d. Mol Genet Metab. 2019 Sep-Oct;128(1-2):113-121. doi: 10.1016/j.ymgme.2019.07.015. Epub 2019 Jul 29. Mol Genet Metab. 2019. PMID: 31395333 Free article. No abstract available.
A new D-galactose treatment monitoring index for PGM1-CDG.
Perales-Clemente E, Liedtke K, Studinski A, Radenkovic S, Gavrilov D, Oglesbee D, Matern D, Rinaldo P, Tortorelli S, Morava E, Raymond K. Perales-Clemente E, et al. Among authors: gavrilov d. J Inherit Metab Dis. 2021 Sep;44(5):1263-1271. doi: 10.1002/jimd.12406. Epub 2021 Jun 22. J Inherit Metab Dis. 2021. PMID: 34043239
89 results