Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial
Van Hove, Johan L. K., Freehauf, Cynthia L., Ficicioglu, Can, Pena, Loren D. M., Moreau, Kerrie L., Henthorn, Thomas K., Christians, Uwe, Jiang, Hua, Cowan, Tina M., Young, Sarah P., Hite, Michelle, Friederich, Marisa W., Stabler, Sally P., Spector, Elaine B., Kronquist, Kathryn E., Thomas, Janet A., Emmett, Peggy, Harrington, Mary J., Pyle, Laura, Creadon‐Swindell, Geralyn, Wempe, Michael F., MacLean, Kenneth N.
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
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Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
BAKER, Peter R, FRIEDERICH, Marisa W, LEE, Wang-Tso, DESHPANDE, Charu, FRECKMANN, Mary-Louise, SHIH, Ling-Yu, WASSERSTEIN, Melissa, RASMUSSEN, Malene B, LUND, Allan M, PROCOPIS, Peter, CAMERON, Jessie M, ROBINSON, Brian H, SWANSON, Michael A, BROWN, Garry K, BROWN, Ruth M, COMPTON, Alison G, DIECKMANN, Carol L, COLLARD, Renata, COUGHLIN, Curtis R, SPECTOR, Elaine, WEMPE, Michael F, VAN HOVE, Johan L. K, SHAIKH, Tamim, BHATTACHARYA, Kaustuv, SCHARER, Gunter H, AICHER, Joseph, CREADON-SWINDELL, Geralyn, GEIGER, Elizabeth, MACLEAN, Kenneth N
Published in Brain (London, England : 1878) (01.02.2014)
Published in Brain (London, England : 1878) (01.02.2014)
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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Coughlin, Curtis R, Scharer, Gunter H, Friederich, Marisa W, Yu, Hung-Chun, Geiger, Elizabeth A, Creadon-Swindell, Geralyn, Collins, Abigail E, Vanlander, Arnaud V, Coster, Rudy Van, Powell, Christopher A, Swanson, Michael A, Minczuk, Michal, Van Hove, Johan L K, Shaikh, Tamim H
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
Bjoraker, Kendra J., PhD, Swanson, Michael A., PhD, Coughlin, Curtis R., MS, MBe, Christodoulou, John, MB, BS, PhD, Tan, Ee S., MB, BS, Fergeson, Mark, MD, Dyack, Sarah, MD, Ahmad, Ayesha, MD, Friederich, Marisa W., PhD, Spector, Elaine B., PhD, Creadon-Swindell, Geralyn, BS, Hodge, M. Antoinette, DPsych, Gaughan, Sommer, RD, Burns, Casey, RD, Van Hove, Johan L.K., MD, PhD
Published in The Journal of pediatrics (01.03.2016)
Published in The Journal of pediatrics (01.03.2016)
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Journal Article
genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
Scharer, Gunter, Brocker, Chad, Vasiliou, Vasilis, Creadon-Swindell, Geralyn, Gallagher, Renata C, Spector, Elaine, Van Hove, Johan L. K
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
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Journal Article
Pathogenic variants in MRPL44 causes infantile cardiomyopathy due to a mitochondrial translation defect
Friederich, Marisa W., Geddes, Gabrielle C., Wortmann, Saskia B., Punnoose, Ann, Wartchow, Eric, Knight, Kaz M., Prokisch, Holger, Creadon-Swindell, Geralyn, Mayr, Johannes A., Van Hove, Johan L.K.
Published in Molecular genetics and metabolism (10.06.2021)
Published in Molecular genetics and metabolism (10.06.2021)
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Journal Article
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect
Friederich, Marisa W., Geddes, Gabrielle C., Wortmann, Saskia B., Punnoose, Ann, Wartchow, Eric, Knight, Kaz M., Prokisch, Holger, Creadon-Swindell, Geralyn, Mayr, Johannes A., Van Hove, Johan L.K.
Published in Molecular genetics and metabolism (01.08.2021)
Published in Molecular genetics and metabolism (01.08.2021)
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Journal Article
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Coughlin, Curtis R., Swanson, Michael A., Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg, Ana M., Rahikkala, Elisa, Moilanen, Jukka S., Mahieu, Vincent, Matthijs, Gert, Bravo-Alonso, Irene, Pérez-Cerdá, Celia, Ugarte, Magdalena, Vianey-Saban, Christine, Scharer, Gunter H., Van Hove, Johan L.K.
Published in Genetics in medicine (01.01.2017)
Published in Genetics in medicine (01.01.2017)
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Journal Article
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Coughlin, Curtis R, Swanson, Michael A, Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg, Ana M, Rahikkala, Elisa, Moilanen, Jukka S, Mahieu, Vincent, Matthijs, Gert, Bravo-Alonso, Irene, Pérez-Cerdá, Celia, Ugarte, Magdalena, Vianey-Saban, Christine, Scharer, Gunter H, Van Hove, Johan L K
Published in Genetics in medicine (01.09.2018)
Published in Genetics in medicine (01.09.2018)
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d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence
Swanson, Michael A., Garcia, Stephanie M., Spector, Elaine, Kronquist, Kathryn, Creadon-Swindell, Geralyn, Walter, Melanie, Christensen, Ernst, Van Hove, Johan L.K., Sass, Jörn Oliver
Published in Molecular genetics and metabolism (01.06.2017)
Published in Molecular genetics and metabolism (01.06.2017)
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