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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: fonseca m. 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
Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
van der Knaap MS, Lai V, Köhler W, Salih MA, Fonseca MJ, Benke TA, Wilson C, Jayakar P, Aine MR, Dom L, Lynch B, Kálmánchey R, Pietsch P, Errami A, Scheper GC. van der Knaap MS, et al. Ann Neurol. 2010 Jun;67(6):834-7. doi: 10.1002/ana.21980. Ann Neurol. 2010. PMID: 20517947
Amiloride lowers plasma TNF and interleukin-6 but not interleukin-17A in patients with hypertension and type 2 diabetes.
Thangaraj SS, Oxlund CS, Andersen H, Svenningsen P, Stubbe J, Palarasah Y, Fonseca MPD, Ketelhuth DFJ, Enggaard C, Hansen MH, Henriksen JE, Jacobsen IA, Jensen BL. Thangaraj SS, et al. Among authors: fonseca mpd. Am J Physiol Renal Physiol. 2024 May 23. doi: 10.1152/ajprenal.00268.2023. Online ahead of print. Am J Physiol Renal Physiol. 2024. PMID: 38779752
The state of health in the European Union (EU-27) in 2019: a systematic analysis for the Global Burden of Disease study 2019.
Santos JV, Padron-Monedero A, Bikbov B, Grad DA, Plass D, Mechili EA, Gazzelloni F, Fischer F, Sulo G, Ngwa CH, Noguer-Zambrano I, Peñalvo JL, Haagsma JA, Kissimova-Skarbek K, Monasta L, Ghith N, Sarmiento-Suarez R, Hrzic R, Haneef R, O'Caoimh R, Cuschieri S, Mondello S, Kabir Z; GBD 2019 EU State of Health Collaborators; Freitas A, Devleesschauwer B. Santos JV, et al. BMC Public Health. 2024 May 22;24(1):1374. doi: 10.1186/s12889-024-18529-3. BMC Public Health. 2024. PMID: 38778362 Free PMC article.
1,566 results