Results 101 to 110 of about 50,342 (212)

Adult onset Leigh syndrome

Annals of Indian Academy of Neurology, 2007
Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults.
Pandit Lekha, Narayanappa Gayatri, Shetty Lathika, Krishna Sree   +3 more
doaj  

Leigh Syndrome: Report of a Rare Case with Late Onset Presentation

مجله كليه طب الكندي, 2018
Leigh's syndrome, or sub acute necrotizing encephalomyelopathy, is a rare inherited neurometabolic disease of infancy and early childhood with variable course and prognosis. Rarely, it occurs in juveniles and adults. The diagnosis is difficult and still
Qays A. Hassan
doaj   +1 more source

Naxos Disease [PDF]

, 2005
Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Protonotarios, Nikos, Tsatsopoulou, Adalena   +1 more
core   +1 more source

Leigh syndrome

Nursing Children and Young People, 2017
Doreen Crawford, Annette Dearmun
  +4 more sources

Coenzyme Q10 deficiencies: pathways in yeast and humans. [PDF]

, 2018
Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant.
Awad, Agape M, Bradley, Michelle C, Clarke, Catherine F, Fernández-Del-Río, Lucía, Nag, Anish, Tsui, Hui S   +5 more
core  

Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification

Mitochondrial DNA. Part B. Resources, 2019
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents ∼10–20% of LS.
Lía Mayorga, Juan A. Cueto, Adriana P. Correa, María J. Guillamondegui, Mariana A. Loos, Verónica H. Araoz, Sergio R. Laurito, María Roqué   +7 more
doaj   +1 more source

Leigh syndrome [PDF]

, 1987
163 p.
openaire  

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13

Cells
Inherited metabolic disorders (IMDs) are genetic disorders that occur in as many as 1:2500 births worldwide. Nevertheless, they are quite rare individually and even more rare is the co-occurrence of two IMDs in one individual.
Silvia Radenkovic, Isabelle Adant, Matthew J. Bird, Johannes V. Swinnen, David Cassiman, Tamas Kozicz, Sarah C. Gruenert, Bart Ghesquière, Eva Morava   +8 more
doaj   +1 more source

Mobilizing the Vietnamese Body: Dance Theory, Critical Refugee Studies, and the Aftermaths of War in Andrew X. Pham’s Catfish and Mandala [PDF]

, 2018
Mobilizing the Vietnamese Body: Dance Theory, Critical Refugee Studies, and the Aftermaths of War in Andrew X. Pham’s Catfish and Mandala Through analysis of Andrew X.
Le, Quynh Nhu, Zhu, Ying
core   +1 more source

Genetically and metabolically corrected pluripotent stem cells from patients with mtDNA disease [PDF]

, 2015
Ahmed, Riffat, Amato, Paula, Belmonte, Juan Carlos Izpisua, Folmes, Clifford DL, Gutierrez, Nuria Marti, Hayama, Tomonari, Huang, Taosheng, Kang, Eunju, Koski, Amy, Laurent, Louise C, Lee, Yeonmi, Li, Ying, Ma, Hong, Ma, Li, Mitalipov, Nargiz, Mitalipov, Shoukhrat, Mora-Castilla, Sergio, Morey, Robert, Ocampo, Alejandro, Poulton, Joanna, Terzic, Andre, Tippner-Hedges, Rebecca, Van Dyken, Crystal, Wang, Xinjian, Wolf, Don P, Wu, Jun   +25 more
core   +1 more source