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98 results

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Page 1
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE, Miethke AG, Valencia CA, Hawthorne K, Henn L, Van Hove JLK, Squires RH, Bove K, Horslen S, Kohli R, Molleston JP, Romero R, Alonso EM, Bezerra JA, Guthery SL, Hsu E, Karpen SJ, Loomes KM, Ng VL, Rosenthal P, Mysore K, Wang KS, Friederich MW, Magee JC, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN). Squires JE, et al. Among authors: van hove jlk. Hepatol Commun. 2023 May 15;7(6):e0139. doi: 10.1097/HC9.0000000000000139. eCollection 2023 Jun 1. Hepatol Commun. 2023. PMID: 37184518 Free PMC article.
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.
Poquérusse J, Nolan M, Thorburn DR, Van Hove JLK, Friederich MW, Love DR, Taylor J, Powell CA, Minczuk M, Snell RG, Lehnert K, Glamuzina E, Jacobsen JC. Poquérusse J, et al. Among authors: van hove jlk. JIMD Rep. 2023 Jan 22;64(3):223-232. doi: 10.1002/jmd2.12360. eCollection 2023 May. JIMD Rep. 2023. PMID: 37151360 Free PMC article.
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T. Ligezka AN, et al. Among authors: van hove jlk. Genes (Basel). 2023 Aug 4;14(8):1585. doi: 10.3390/genes14081585. Genes (Basel). 2023. PMID: 37628636 Free PMC article.
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
Swanson MA, Jiang H, Busquet N, Carlsen J, Brindley C, Benke TA, Van Hove RA, Friederich MW, MacLean KN, Mesches MH, Van Hove JLK. Swanson MA, et al. Among authors: van hove jlk. bioRxiv [Preprint]. 2024 Mar 29:2024.03.26.586818. doi: 10.1101/2024.03.26.586818. bioRxiv. 2024. PMID: 38586005 Free PMC article. Preprint.
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.
Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Sharma R, Shah H, Estrella J, Gabel L, Horslen S, Kohli R, Lovell MA, Miethke AG, Molleston JP, Romero R, Squires JE, Alonso EM, Guthery SL, Kamath BM, Loomes KM, Rosenthal P, Mysore KR, Cavallo LA, Valentino PL, Magee JC, Sundaram SS, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN). Van Hove JLK, et al. Hepatol Commun. 2024 Jan 5;8(1):e0361. doi: 10.1097/HC9.0000000000000361. eCollection 2024 Jan 1. Hepatol Commun. 2024. PMID: 38180987 Free PMC article.
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: van hove jlk. Neurology. 2023 Jul 18;101(3):e238-e252. doi: 10.1212/WNL.0000000000207402. Epub 2023 Jun 2. Neurology. 2023. PMID: 37268435 Free PMC article. Clinical Trial.
Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. Shelkowitz E, et al. Among authors: van hove jlk. Orphanet J Rare Dis. 2023 Mar 13;18(1):54. doi: 10.1186/s13023-023-02646-0. Orphanet J Rare Dis. 2023. PMID: 36915141 Free PMC article. No abstract available.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Arribas-Carreira L, et al. Among authors: van hove jlk. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.
98 results