Hypoparathyroidism in Mitochondrial Disorders

作者: Daniele Orsucci , Gabriele Siciliano , Michelangelo Mancuso

DOI: 10.1007/978-88-470-5376-2_21

关键词:

摘要: Mitochondrial diseases are a group of disorders caused by impairment the mitochondrial respiratory chain. The genetic defect can be located on or nuclear DNA. Phenotypes polymorphous and may range from pure myopathy to multisystem disorders, with variable age at onset, severity, progression.

参考文章(28)
M. Filosto, M. Mancuso, Mitochondrial diseases: a nosological update Acta Neurologica Scandinavica. ,vol. 115, pp. 211- 221 ,(2007) , 10.1111/J.1600-0404.2006.00777.X
Michelangelo Mancuso, Daniele Orsucci, Massimiliano Filosto, Costanza Simoncini, Gabriele Siciliano, Drugs and mitochondrial diseases: 40 queries and answers Expert Opinion on Pharmacotherapy. ,vol. 13, pp. 527- 543 ,(2012) , 10.1517/14656566.2012.657177
M. Mancuso, D. Orsucci, F. Coppede, C. Nesti, A. Choub, G. Siciliano, Diagnostic Approach to Mitochondrial Disorders: the Need for a Reliable Biomarker Current Molecular Medicine. ,vol. 9, pp. 1095- 1107 ,(2009) , 10.2174/156652409789839099
Jong-Hee Chae, Byung Chan Lim, Hae Il Cheong, Yong Seung Hwang, Ki Joong Kim, Hee Hwang, A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy. Journal of the Neurological Sciences. ,vol. 292, pp. 104- 106 ,(2010) , 10.1016/J.JNS.2010.02.006
Sara Seneca, Linda De Meirleir, Jean De Scbepper, Nadine Balduck, Kristin Jochmans, Inge Liebaers, Willy Lissens, Pearson marrow pancreas syndrome: a molecular study and clinical management. Clinical Genetics. ,vol. 51, pp. 338- 342 ,(2008) , 10.1111/J.1399-0004.1997.TB02484.X
Már H. Tulinius, Anders Oldfors, Elisabeth Holme, Nils-Göran Larsson, Massoud Houshmand, Per Fahleson, Lars Sigström, Bengt Kristiansson, Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions European Journal of Pediatrics. ,vol. 154, pp. 35- 42 ,(1995) , 10.1007/BF01972970
Carlo Dionisi-Vici, Barbara Garavaglia, Alberto B. Burlina, Enrico Bertini, Isora Saponara, Gaetano Sabetta, Franco Taroni, Hypoparathyroidism in mitochondrial trifunctional protein deficiency The Journal of Pediatrics. ,vol. 129, pp. 159- 162 ,(1996) , 10.1016/S0022-3476(96)70206-8
François Labarthe, Jean François Benoist, Michèle Brivet, Christine Vianey-Saban, François Despert, Hélène Ogier de Baulny, Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency European Journal of Pediatrics. ,vol. 165, pp. 389- 391 ,(2006) , 10.1007/S00431-005-0052-5
Ekkehard Wilichowski, Annette Grüters, Klaus Kruse, Dietz Rating, Rolf Beetz, Georg Christoph Korenke, Bernd Peter Ernst, Hans-Jürgen Christen, Folker Hanefeld, Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. Pediatric Research. ,vol. 41, pp. 193- 200 ,(1997) , 10.1203/00006450-199702000-00007
Kiyonobu TANAKA, Yasuharu TAKADA, Tsuyoshi MATSUNAKA, Susumu YUYAMA, Shun FUJINO, Motofumi MAGUCHI, Shogo YAMASHITA, Ideo YUBA, Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA. Internal Medicine. ,vol. 39, pp. 249- 252 ,(2000) , 10.2169/INTERNALMEDICINE.39.249