Search Results - "mitochondrial disorders"

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series by Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib

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Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I by Tereza Danhelovska, Hana Kolarova, Jiri Zeman, Hana Hansikova, Manuela Vaneckova, Lukas Lambert, Vendula Kucerova-Vidrova, Kamila Berankova, Tomas Honzik, Marketa Tesarova

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Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome by Junling Wang, Zhimei Liu, Manting Xu, Xiaodi Han, Changhong Ren, Xinying Yang, Chunhua Zhang, Fang Fang

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Mitochondrial stroke-like episodes: The search for new therapies by Daniele Orsucci, Elena Caldarazzo Ienco, Vincenzo Montano, Gabriele Siciliano, Michelangelo Mancuso

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Adult mitochondrial DNA depletion syndrome with mild manifestations by Josef Finsterer, Gabor G. Kovacs, Uwe Ahting

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Mitochondrial Diabetes May Not Be the Only Phenotypic Presentation of the m.5826A>G mtDNA Variant [Letter] by Finsterer J

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Molar Incisor Hypomineralization (MIH) in a Child with Congenital Chronic Intestinal Pseudoobstruction (CIPO) by Mohammed Zameer, Syed Ali Peeran, Syed Nahid Basheer, Syed Wali Peeran, Sameen Badiujjama Birajdar, Faisal Mohammad Alzahrani, Ali Mohammed A. Alkhayrat

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Antiretroviral therapy-induced Leber's hereditary optic neuropathy by Anand Moodley, Sudika Bhola, Fierdoz Omar, Jade Mogambery

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Delivery Systems for Mitochondrial Gene Therapy: A Review by Rúben Faria, Prisca Boisguérin, Ângela Sousa, Diana Costa

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Application of natural antioxidants from traditional Chinese medicine in the treatment of spinal cord injury by Zhihua Huang, Jingyi Wang, Chun Li, Weihong Zheng, Junyuan He, Ziguang Wu, Jianbang Tang

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Genetic Variability of HUPRA Syndrome-A Case Report by Edita Petrosyan, Maria Molchanova, Berta Kushnir, Patritsia Povilaitite, Polina Tsygankova, Ekaterina Zakharova, Maria Proskura

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Classic ketogenic diet-induced ketoacidosis in the treatment of pyruvate dehydrogenase deficiency: a case report and literature review by Rongrong Li, Mingsheng Ma, Wei Chen, Zhengqing Qiu

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Compound heterozygous mutations of gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review by Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim

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Development of a novel PTD-mediated IVT-mRNA delivery platform for potential protein replacement therapy of metabolic/genetic disorders by Androulla N. Miliotou, Ioannis S. Pappas, George Spyroulias, Efthimia Vlachaki, Asterios S. Tsiftsoglou, Ioannis S. Vizirianakis, Lefkothea C. Papadopoulou

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Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia by Sarar Mohamed, Ebtessam M. El Melegy, Iman Talaat, Amany Hosny, Khaled K. Abu-Amero

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From Rare Disorders of Kidney Tubules to Acute Renal Injury: Progress and Prospective by Jiaying Li, Fangxing Hou, Ning Lv, Ruohuan Zhao, Lei Zhang, Cai Yue, Min Nie, Limeng Chen

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Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndrome by Ana Solis, Joshua Shimony, Marwan Shinawi, Kevin T. Barton

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Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report by Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali

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Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease by Lieber Daniel S, Vafai Scott B, Horton Laura C, Slate Nancy G, Liu Shangtao, Borowsky Mark L, Calvo Sarah E, Schmahmann Jeremy D, Mootha Vamsi K

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VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype by Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu

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