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The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. Schillaci LA, et al. Among authors: enns gm. Mol Genet Metab. 2016 Sep;119(1-2):50-6. doi: 10.1016/j.ymgme.2016.06.012. Epub 2016 Jul 1. Mol Genet Metab. 2016. PMID: 27397597
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Lerner S, Eilam R, Adler L, Baruteau J, Kreiser T, Tsoory M, Brandis A, Mehlman T, Ryten M, Botia JA, Ruiz SG, Garcia AC, Dionisi-Vici C, Ranucci G, Spada M, Mazkereth R, McCarter R, Izem R, Balmat TJ, Richesson R; Members of the UCDC; Gazit E, Nagamani SCS, Erez A. Lerner S, et al. Hum Genet. 2021 Oct;140(10):1471-1485. doi: 10.1007/s00439-021-02345-5. Epub 2021 Aug 21. Hum Genet. 2021. PMID: 34417872 Free PMC article.
Mitochondrial diseases in North America: An analysis of the NAMDC Registry.
Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. Barca E, et al. Among authors: enns gm. Neurol Genet. 2020 Mar 2;6(2):e402. doi: 10.1212/NXG.0000000000000402. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337332 Free PMC article.
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M. Ah Mew N, et al. Among authors: enns gm. Transl Sci Rare Dis. 2018 Dec 20;3(3-4):157-170. doi: 10.3233/TRD-180031. Transl Sci Rare Dis. 2018. PMID: 30613471 Free PMC article.
176 results