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Page 1
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Van Hove JLK, Vaz FM, Havinga R, Allersma DP, Zijp TR, Bedoyan JK, Heiner-Fokkema MR, Reijngoud DJ, Geraghty MT, Wanders RJA, Oosterveer MH, Derks TGJ. van Rijt WJ, et al. Among authors: van hove jlk. J Inherit Metab Dis. 2021 Jul;44(4):926-938. doi: 10.1002/jimd.12365. Epub 2021 Feb 15. J Inherit Metab Dis. 2021. PMID: 33543789 Free PMC article.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. van Rijt WJ, et al. Among authors: van hove jlk, van spronsen f. Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6. Genet Med. 2020. PMID: 31904027 Free PMC article.
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Ferdinandusse S, et al. Orphanet J Rare Dis. 2015 Jun 18;10:79. doi: 10.1186/s13023-015-0290-1. Orphanet J Rare Dis. 2015. PMID: 26081110 Free PMC article.
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR. Van Hove JL, et al. Pediatr Res. 2010 Aug;68(2):159-64. doi: 10.1203/PDR.0b013e3181e5c3a4. Pediatr Res. 2010. PMID: 20453710 Free PMC article.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: van hove jlk, van karnebeek cdm. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, Oussoren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M. Wortmann SB, et al. Among authors: van hove jlk, van schaftingen e, van spronsen fj. Blood. 2020 Aug 27;136(9):1033-1043. doi: 10.1182/blood.2019004465. Blood. 2020. PMID: 32294159 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: van hove jlk. Neurol Genet. 2020 Mar 2;6(2):e402. doi: 10.1212/NXG.0000000000000402. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337332 Free PMC article.
155 results