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Clinical score for early diagnosis and treatment of stroke-like episodes in MELAS syndrome.
Naftali J, Mermelstein M, Landau YE, Barnea R, Shelly S, Auriel E, Peretz S. Naftali J, et al. Acta Neurol Belg. 2023 Jun;123(3):1019-1028. doi: 10.1007/s13760-023-02196-z. Epub 2023 Feb 15. Acta Neurol Belg. 2023. PMID: 36792807
SLE patients had significantly different features: they were younger, more commonly reported hearing loss, lower body mass index, had more commonly a combination of headache and/or seizures at presentation, serum lactate was higher, and hemiparesis was less common. ...
SLE patients had significantly different features: they were younger, more commonly reported hearing loss, lower body mass index, had more c …
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Thuillier L, Rostane H, Droin V, Demaugre F, Brivet M, Kadhom N, Prip-Buus C, Gobin S, Saudubray JM, Bonnefont JP. Thuillier L, et al. Hum Mutat. 2003 May;21(5):493-501. doi: 10.1002/humu.10201. Hum Mutat. 2003. PMID: 12673791
Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common inherited disease of the mitochondrial long-chain fatty acid (LCFA) oxidation, may result in distinct clinical phenotypes, namely a mild adult muscular form and a severe hepatocardiomuscular disease …
Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common inherited disease of the mitochondrial long-chain fatty ac …
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients. ...Analysis of respiratory chain enzyme activities in muscle generally showed a combined deficiency …
We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 p …
Disease- and treatment-related predictors of hepatic mitochondrial dysfunction in chronic HIV infection assessed by non-invasive (13)C-methionine breath test diagnostic.
Banasch M, Knyhala K, Kollar S, Serova K, Potthoff A, Schlottmann R, Schmidt WE, Brockmeyer NH, Goetze O. Banasch M, et al. Eur J Med Res. 2008 Sep 22;13(9):401-8. Eur J Med Res. 2008. PMID: 18948231
PATIENTS AND METHODS: 148 HIV positive individuals with and without antiretroviral treatment (ART) [44 therapy-naives; 89 patients on combination ART and 15 patients on structured treatment interruption (STI)] and 20 HIV-negative controls were studied prospectively …
PATIENTS AND METHODS: 148 HIV positive individuals with and without antiretroviral treatment (ART) [44 therapy-naives; 89 patients on …