LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Autor: Penelope E. Bonnen, Langping He, Monika Oláhová, Garry K. Brown, Ines A. Barbosa, Erik Aznauryan, Charlotte L. Alston, Johannes Koch, John W. Yarham, Michael A. Simpson, Helen Mundy, Alex Broomfield, Ruth M. Brown, Tobias B. Haack, William C. Wilson, Charu Deshpande, Holger Prokisch, Georg M. Stettner, Julie Hall, Dorothea Moeslinger, Zofia M.A. Chrzanowska-Lightowlers, Steven A. Hardy, Robert McFarland, Robert W. Taylor, Andrew A. M. Morris, Robert N. Lightowlers

Publikováno v: Brain
Brain 138, 3503-3519 (2015)
Oláhová, M, Hardy, S A, Hall, J, Yarham, J W, Haack, T B, Wilson, W C, Alston, C L, He, L, Aznauryan, E, Brown, R M, Brown, G K, Morris, A A M, Mundy, H, Broomfield, A, Barbosa, I A, Simpson, M A, Deshpande, C, Moeslinger, D, Koch, J, Stettner, G M, Bonnen, P E, Prokisch, H, Lightowlers, R N, McFarland, R, Chrzanowska-Lightowlers, Z M A & Taylor, R W 2015, ' LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population ', Brain : a journal of neurology, vol. 138, no. 12, pp. 3503-3519 . https://doi.org/10.1093/brain/awv291

The French-Canadian variant of COX-deficient Leigh syndrome (LSFC) is unique to Québec and caused by a founder mutation in the LRPPRC gene. Using whole exome sequencing, Oláhová et al. identify mutations in this gene associated with multisystem mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef3f3a117edc848b627c5d07dad6678
http://europepmc.org/articles/PMC4655343

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

Autor: S. Scheibenreiter, Adolf Muehl, M.W. Strobl, Johannes Häberle, Dorothea Moeslinger, M. Herle, Katharina Engel, Sylvia Stockler-Ipsiroglu, Saadet Mercimek-Mahmutoglu

Publikováno v: Molecular Genetics and Metabolism

Twenty three patients with late onset argininosuccinate lyase deficiency (ASLD) were identified during a 27 year period of newborn screening in Austria (1:95600 95 CI = 1:68036 1:162531). One additional patient was identified outside the newborn scre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f89ad4e9f4e973a15d1d8c50db677d4

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Autor: Peter Freisinger, Corinne De Laet, Jiri Zeman, Nuria Garcia Segarra, Sebene Mayorandan, Dorothea Moeslinger, Johannes Sander, J. F. Jordan, Ute Spiekerkoetter, Matthias Gautschi, José Angel Cocho de Juan, Arndt Vogel, Francjan J. van Spronsen, Sabine Scholl-Bürgi, María Luz Couce Pico, U. Meyer, Jessica Endig, Arianna Maiorana, Hélène Ogier de Baulny, Gülden Gökçay, René Santer, Susanne Morlot, Eva Thimm, Michaela Brunner-Krainz, Yngve Thomas Bliksrud, Patrick J. McKiernan, Luis Aldámiz-Echevarría, Carlo Dionisi-Vici, Michel Hochuli, Amelie S. Lotz-Havla, Stefanie Ernst, Hanna Mandel, Anibh M. Das

Publikováno v: Orphanet journal of rare diseases, 9 (1
Orphanet journal of rare diseases, 9:107. BMC
Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria; de Baulny, Hélène; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie; Cocho de Juan, José; Couce Pico, Maria; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; ... (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet journal of rare diseases, 9(1), p. 107. BioMed Central 10.1186/s13023-014-0107-7
Orphanet Journal of Rare Diseases

Background: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec3e2d9a006e17ad87b0635a99a276c7
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/192464

Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix

Autor: Dorothea Moeslinger, Sylvia Stoeckler-Ipsiroglu, Martina Huemer, Ulrike Holzbach, Ron A. Wevers, Wolf-Dietrich Huber, Wolfgang Schima, Hans Wank

Publikováno v: Journal of Pediatrics, 136, pp. 691-695
Journal of Pediatrics, 136, 691-695

A 6-year-old male patient presented with Budd-Chiari syndrome and glyco-protein abnormalities associated with carbohydrate deficient glycoproteln syndrome type I with yet unidentified molecular defect (type Ix). Budd-Chiari syndrome most likely devel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a084ad13c3437214f96328523c78523c
https://hdl.handle.net/2066/185878