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A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. Ensenauer R, et al. Am J Hum Genet. 2004 Dec;75(6):1136-42. doi: 10.1086/426318. Epub 2004 Oct 14. Am J Hum Genet. 2004. PMID: 15486829 Free PMC article.
How strict is galactose restriction in adults with galactosaemia? International practice.
Adam S, Akroyd R, Bernabei S, Bollhalder S, Boocock S, Burlina A, Coote T, Corthouts K, Dalmau J, Dawson S, Defourny S, De Meyer A, Desloovere A, Devlin Y, Diels M, Dokoupil K, Donald S, Evans S, Fasan I, Ferguson C, Ford S, Forga M, Gallo G, Grünert SC, Heddrich-Ellerbrok M, Heidenborg C, Jonkers C, Lefebure K, Luyten K, MacDonald A, Meyer U, Micciche A, Müller E, Portnoi P, Ripley S, Robert M, Robertson LV, Rosenbaum-Fabian S, Sahm K, Schultz S, Singleton K, Sjöqvist E, Stoelen L, Terry A, Thompson S, Timmer C, Vande Kerckhove K, van der Ploeg L, Van Driessche M, van Rijn M, van Teeffelen-Heithoff A, Vitoria I, Voillot C, Wenz J, Westbrook M, Wildgoose J, Zweers H. Adam S, et al. Among authors: grunert sc. Mol Genet Metab. 2015 May;115(1):23-6. doi: 10.1016/j.ymgme.2015.03.008. Epub 2015 Apr 7. Mol Genet Metab. 2015. PMID: 25873073
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Among authors: grunert sc. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Among authors: grunert sc. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
Mutation analysis in 54 propionic acidemia patients.
Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO. Kraus JP, et al. Among authors: grunert sc. J Inherit Metab Dis. 2012 Jan;35(1):51-63. doi: 10.1007/s10545-011-9399-0. Epub 2011 Oct 27. J Inherit Metab Dis. 2012. PMID: 22033733
119 results