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D-2-hydroxyglutaric aciduria: further clinical delineation.
van der Knaap MS, Jakobs C, Hoffmann GF, Duran M, Muntau AC, Schweitzer S, Kelley RI, Parrot-Roulaud F, Amiel J, De Lonlay P, Rabier D, Eeg-Olofsson O. van der Knaap MS, et al. Among authors: muntau ac. J Inherit Metab Dis. 1999 Jun;22(4):404-13. doi: 10.1023/a:1005548005393. J Inherit Metab Dis. 1999. PMID: 10407777
Comparing SARS-CoV-2 variants among children and adolescents in Germany: relative risk of COVID-19-related hospitalization, ICU admission and mortality.
Jank M, Oechsle AL, Armann J, Behrends U, Berner R, Chao CM, Diffloth N, Doenhardt M, Hansen G, Hufnagel M, Lander F, Liese JG, Muntau AC, Niehues T, von Both U, Verjans E, Weil K, von Kries R, Schroten H. Jank M, et al. Among authors: muntau ac. Infection. 2023 Oct;51(5):1357-1367. doi: 10.1007/s15010-023-01996-y. Epub 2023 Feb 14. Infection. 2023. PMID: 36787015 Free PMC article.
Reduced Humoral and Cellular Immune Response to Primary COVID-19 mRNA Vaccination in Kidney Transplanted Children Aged 5-11 Years.
Lalia JK, Schild R, Lütgehetmann M, Dunay GA, Kallinich T, Kobbe R, Massoud M, Oh J, Pietzsch L, Schulze-Sturm U, Schuetz C, Sibbertsen F, Speth F, Thieme S, Witkowski M, Berner R, Muntau AC, Gersting SW, Toepfner N, Pagel J, Paul K. Lalia JK, et al. Among authors: muntau ac. Viruses. 2023 Jul 14;15(7):1553. doi: 10.3390/v15071553. Viruses. 2023. PMID: 37515239 Free PMC article.
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.
Hoffmann GF, Böhles HJ, Burlina A, Duran M, Herwig J, Lehnert W, Leonard JV, Muntau A, Plecko-Starting FK, Superti-Furga A, et al. Hoffmann GF, et al. J Inherit Metab Dis. 1995;18(2):173-6. doi: 10.1007/BF00711759. J Inherit Metab Dis. 1995. PMID: 7564239 No abstract available.
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E. Hoffmann GF, et al. Among authors: muntau ac. Neuropediatrics. 1996 Jun;27(3):115-23. doi: 10.1055/s-2007-973761. Neuropediatrics. 1996. PMID: 8837070
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS. Nota B, et al. Among authors: muntau ac. Am J Hum Genet. 2013 Apr 4;92(4):627-31. doi: 10.1016/j.ajhg.2013.03.009. Am J Hum Genet. 2013. PMID: 23561848 Free PMC article.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. van de Kamp JM, et al. Among authors: muntau ac. J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3. J Med Genet. 2013. PMID: 23644449
120 results