Kappen AJ - Search Results

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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

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. J Clin Med. 2019 Aug 20;8(8):1262. doi: 10.3390/jcm8081262. J Clin Med. 2019. PMID: 31434271 Free PMC article.

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.

Barbosa-Gouveia S, González-Vioque E, Hermida Á, Suarez MU, Martínez-González MJ, Borges F, Wintjes L, Kappen A, Rodenburg R, Couce ML. Barbosa-Gouveia S, et al. 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. 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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