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Page 1
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
Genes (Basel). 2020 Sep 2;11(9):1028. doi: 10.3390/genes11091028.
Genes (Basel). 2020.
PMID: 32887222
Free PMC article.
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Barbosa-Gouveia S, Vázquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras Á, Valverde LL, Armstrong-Moron J, Fons-Estupiña MDC, Wintjes LT, Kappen A, Rodenburg RJ, Couce ML.
Barbosa-Gouveia S, et al. Among authors: kappen a.
Int J Mol Sci. 2021 Dec 15;22(24):13484. doi: 10.3390/ijms222413484.
Int J Mol Sci. 2021.
PMID: 34948281
Free PMC article.
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Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.
Barbosa-Gouveia S, González-Vioque E, Borges F, Gutiérrez-Solana L, Wintjes L, Kappen A, van den Heuvel L, Leis R, Rodenburg R, Couce ML.
Barbosa-Gouveia S, et al. Among authors: kappen a.
J Clin Med. 2019 Aug 20;8(8):1262. doi: 10.3390/jcm8081262.
J Clin Med. 2019.
PMID: 31434271
Free PMC article.
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High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.
Jonckheere AI, Huigsloot M, Janssen AJ, Kappen AJ, Smeitink JA, Rodenburg RJ.
Jonckheere AI, et al. Among authors: kappen aj.
Clin Chem. 2010 Mar;56(3):424-31. doi: 10.1373/clinchem.2009.131441. Epub 2009 Dec 31.
Clin Chem. 2010.
PMID: 20044447
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