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Molecular Genetics and Metabolism|May 1, 2013
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz SyndromePatricia Hall, Virginia Michels, Dimitar Gavrilov, et al.International Journal of Dermatology|November 23, 2013
Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathologyMary E Horner, Ali Alikhan, Suzanne Tintle, et al.Clinical Chemistry|July 22, 2016
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass SpectrometrySilvia Tortorelli, Coleman T Turgeon, Dimitar K Gavrilov, et al.Journal of Inherited Metabolic Disease|September 8, 2010
An adult onset case of alpha-methyl-acyl-CoA racemase deficiencyEmily Helen Smith, Dimitar K Gavrilov, Devin Oglesbee, et al.American Journal of Medical Genetics. Part A|December 10, 2022
Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variantsJustin Rosati, Jessica Johnson, Zinandre Stander, et al.Clinical Chemistry|February 19, 2008
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spotsColeman Turgeon, Mark J Magera, Pierre Allard, et al.American Journal of Human Genetics|October 18, 2008
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10Eric A Sherman, Kevin A Strauss, Silvia Tortorelli, et al.International Journal of Neonatal Screening|October 19, 2020
The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin MetabolismDimitar K Gavrilov, Amy L Piazza, Gisele Pino, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|May 15, 2026
Systemic dual-gene therapy reverses biochemical intoxication in the central metabolic compartment of Bckdha-/- miceJiaming Wang, Coleman T Turgeon, Perry R Loken, et al.Molecular Genetics and Metabolism|February 9, 2010
Homogentisic acid interference in routine urine creatinine determinationPerry R Loken, Mark J Magera, Wendy Introne, et al.Pageof 7