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Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis.
Griese M, Brasch F, Aldana VR, Cabrera MM, Goelnitz U, Ikonen E, Karam BJ, Liebisch G, Linder MD, Lohse P, Meyer W, Schmitz G, Pamir A, Ripper J, Rolfs A, Schams A, Lezana FJ. Griese M, et al. Among authors: rolfs a. Clin Genet. 2010 Feb;77(2):119-30. doi: 10.1111/j.1399-0004.2009.01325.x. Epub 2009 Dec 10. Clin Genet. 2010. PMID: 20002450
Protocol and methodology of the Stroke in Young Fabry Patients (sifap1) study: a prospective multicenter European study of 5,024 young stroke patients aged 18-55 years.
Rolfs A, Martus P, Heuschmann PU, Grittner U, Holzhausen M, Tatlisumak T, Böttcher T, Fazekas F, Enzinger C, Ropele S, Schmidt R, Riess O, Norrving B; sifap1 Investigators. Rolfs A, et al. Cerebrovasc Dis. 2011;31(3):253-62. doi: 10.1159/000322153. Epub 2010 Dec 21. Cerebrovasc Dis. 2011. PMID: 21178350
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
Rolfs A, Fazekas F, Grittner U, Dichgans M, Martus P, Holzhausen M, Böttcher T, Heuschmann PU, Tatlisumak T, Tanislav C, Jungehulsing GJ, Giese AK, Putaala J, Huber R, Bodechtel U, Lichy C, Enzinger C, Schmidt R, Hennerici MG, Kaps M, Kessler C, Lackner K, Paschke E, Meyer W, Mascher H, Riess O, Kolodny E, Norrving B; Stroke in Young Fabry Patients (sifap) Investigators. Rolfs A, et al. Stroke. 2013 Feb;44(2):340-9. doi: 10.1161/STROKEAHA.112.663708. Epub 2013 Jan 10. Stroke. 2013. PMID: 23306324 Clinical Trial.
419 results