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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: cassiman d. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Bilateral renal cell carcinoma development in long-term Fabry disease.
Cassiman D, Claes K, Lerut E, Oyen R, Joniau S, Van Damme B, Jaeken J. Cassiman D, et al. J Inherit Metab Dis. 2007 Oct;30(5):830-1. doi: 10.1007/s10545-007-0648-1. Epub 2007 May 12. J Inherit Metab Dis. 2007. PMID: 17505913 No abstract available.
NASH may be trash.
Cassiman D, Jaeken J. Cassiman D, et al. Gut. 2008 Feb;57(2):141-4. doi: 10.1136/gut.2007.123240. Gut. 2008. PMID: 18192446 No abstract available.
Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis.
Witters P, Pirenne J, Aerts R, Monbaliu D, Nevens F, Verslype C, Laleman W, Roskams T, Desmet L, Vlasselaers D, Mariën P, Hoffman I, Lombaerts R, Goethals E, Jaeken J, Meersseman W, Cassiman D. Witters P, et al. Among authors: cassiman d. J Inherit Metab Dis. 2010 Aug;33(4):451. doi: 10.1007/s10545-010-9108-4. Epub 2010 Jun 26. J Inherit Metab Dis. 2010. PMID: 20582478 No abstract available.
Identification of a novel PEX14 mutation in Zellweger syndrome.
Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D. Huybrechts SJ, et al. Among authors: cassiman d. BMJ Case Rep. 2009;2009:bcr07.2008.0503. doi: 10.1136/bcr.07.2008.0503. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686775 Free PMC article.
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, Sarles J, Spraul A, Valayannopoulos V, Ogier de Baulny H; French-Belgian study group for HT-1. Schiff M, et al. J Inherit Metab Dis. 2012 Sep;35(5):823-9. doi: 10.1007/s10545-011-9429-y. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167277
231 results