Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial medicine society

Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell, Anselm, Irina, Cohen, Bruce H. +11 more·2015·Genetics in Medicine

Cites (239)

Items 201–239 of 239

  1. The Effects of Forane and Fluroxene on Mitochondrial Respiration
    Michael L. Nohrwold, Peter J. Cohen · 1973 · Anesthesiology
  2. Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease
    Charalampos M. Mermigkis, Izolde Bouloukaki, Vasileios C. Mastorodemos, Andreas Plaitakis, Vangelis Alogdianakis, Nikolaos Siafakas, Sophia E. Schiza · 2013 · Sleep And Breathing
  3. Effect of a Single Dose of Propofol and Lack of Dextrose Administration in a Child With Mitochondrial Disease
    Haifa Mtaweh, Hülya Bayır, Patrick Michael Kochanek · 2013 · Journal of Child Neurology
  4. Cerebrospinal‐Fluid Lactate in Adult Mitochondriopathy with and without Encephalopathy
    Josef Finsterer · 2001 · Acta Medica Austriaca
  5. Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation
    Deborah Marsden, William L. Nyhan, Bruce A. Barshop · 2001 · European Journal of Pediatrics
  6. Rapid development of life-threatening complete atrioventricular block in Kearns-Sayre syndrome
    Lars Welzing, J.-C. von Kleist-Retzow, Angela Kribs · 2008 · European Journal of Pediatrics
  7. Kearns–Sayre syndrome associated with trifascicular block and QT prolongation
    Pavlos Karanikis, Panagiotis G. Korantzopoulos, Evaggelos Kountouris · 2004 · International Journal of Cardiology
  8. Anesthesia for a child with complex I respiratory chain enzyme deficiency
    E. W. S. Cheam, Lester A. H. Critchley · 1998 · Journal of Clinical Anesthesia
  9. Bilateral Putaminal Necrosis Associated With the Mitochondrial DNA A8344G Myoclonus Epilepsy With Ragged Red Fibers (MERRF) Mutation: An Infantile Case
    Simona Orcesi, Ksenija Gorni, Cristiano Termine · 2006 · Journal of Child Neurology
  10. A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders
    Richard J. Rodenburg, G.C. Schoonderwoerd, Valeria Tiranti et al. · 2012 · Mitochondrion
  11. Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene
    Osamu Sakamoto, Toshihiro Ohura, Kei Murayama, Akira Ohtake, Hiroko Harashima, Daiki Abukawa, Junji Takeyama, Kazuhiro Haginoya, Shigeaki Miyabayashi, Shigeo Kure · 2011 · Pediatrics International
  12. Perioperative White Matter Degeneration and Death in a Patient with a Defect in Mitochondrial Oxidative Phosphorylation
    Alfonso Casta, Elizabeth J. Quackenbush, Constance S. Houck · 1997 · Anesthesiology
  13. Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family
    Luciana Concetta Rigoli, Francesco Prisco, Rosario Alberto Caruso · 2001 · Diabetic Medicine
  14. MRI in Leigh syndrome with SURF1 gene mutation
    M. Savoiardo, Massimo Zeviani, Graziella Uziel · 2001 · Annals of Neurology
  15. Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans
    Xiulian Chen, David Ross Thorburn, Lee-Jun C. Wong, Georgirene D. Vladutiu, Richard Haas, Thuy Le, Charles L. Hoppel, Margaret M. Sedensky, Philip G. Morgan, Si Houn Hahn · 2011 · Genetics in Medicine
  16. Anesthesia for Corrective Spinal Surgery in a Patient with Leigh???s Disease
    Michael A. Cooper, Richard Fox · 2003 · Anesthesia & Analgesia
  17. Anesthetic Management for a Patient with Kearns-Sayre Syndrome
    Takeshi Kitoh, K Mizuno, Tetsutaro Otagiri · 1995 · Anesthesia & Analgesia
  18. Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease
    Rafael Artuch, M. A. Vilaseca, Mercedes Pineda · 1998 · Journal of Inherited Metabolic Disease
  19. Folate metabolism disorder in Kearns‐Sayre syndrome
    Maxime Dougados, J Zittoun, D Laplane · 1983 · Annals of Neurology
  20. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
    William James Craigen, Brett H. Graham, Lee‐Jun C. Wong, Fernando Scaglia, Richard Alan Lewis, Penelope E. Bonnen · 2013 · BMC Medical Genetics
  21. Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note
    Maaike C. de Vries, Richard J. Rodenburg, Éva Morava, Martin M. Y. Lammens, Lambertus P. van den Heuvel, Georg Christoph Korenke, Jan A.M. Smeitink · 2008 · Journal of Inherited Metabolic Disease
  22. Therapeutic approach in a case of Pearson's syndrome.
    Marco Zaffanello, Giuseppe Zamboni · 2005 · PubMed
  23. Binding, Hydration, and Decarboxylation of the Reaction Intermediate Glutaconyl-Coenzyme A by Human Glutaryl-CoA Dehydrogenase
    Jonna B. Westover, Stephen Irwin Goodman, Frank E. Frerman · 2001 · Biochemistry
  24. Kearns–Sayre Syndrome Presenting as 2-Oxoadipic Aciduria
    Bruce A. Barshop, William L. Nyhan, Robert K. Naviaux · 2000 · Molecular Genetics and Metabolism
  25. A Prognostic Index as Diagnostic Strategy in Children Suspected of Mitochondriocytopathy
    M. Estela Rubio‐Gozalbo, R. C. A. Sengers, M. J. F. Trijbels · 2000 · Neuropediatrics
  26. Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome
    Florette K. Hazard, Can H. Ficicioglu, Jaya Ganesh · 2013 · Pediatric and Developmental Pathology
  27. Profound effects of the general anesthetic etomidate on oxidative phosphorylation without effects on their yield
    Anne Devin, Véronique Nogueira, Nicole Avéret · 2006 · Journal of Bioenergetics and Biomembranes
  28. Erratum to “The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients” Molecular Genetics and Metabolism (2012) [34–43]
    Kavi P. Patel, Thomas W. O’Brien, Sankarasubramon H. Subramony · 2012 · Molecular Genetics and Metabolism
  29. MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
    Ayman W. El‐Hattab, Fernando Scaglia, William James Craigen · 2012
  30. Unusual findings in Leigh syndrome caused by T8993C mutation
    Uluç Yiş, Sara Seneca, Eray Dırık · 2008 · European Journal of Paediatric Neurology
  31. The effect of ketamine hydrochloride, a non-barbiturate parenteral anaesthetic on oxidative phosphorylation in rat liver mitochondria
    Anthony Markham, I. Cameron, S.J. White · 1981 · Biochemical Pharmacology
  32. Diabetes and Deafness
    Roger G. Whittaker, Andrew M. Schaefer, Robert McFarland · 2007 · Diabetes Care
  33. Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia
    Nyamkhishig Sambuughin, Xinyue Liu, Sunita Bijarnia · 2013 · Journal of Human Genetics
  34. Additive Effect of Nitrous Oxide and Halothane on Mitochondrial Function
    Michael L. Nahrwold, Peter J. Cohen · 1973 · Anesthesiology
  35. Biochemical parameters to assess choroid plexus dysfunction in Kearns–Sayre syndrome patients
    Mireia Tondo, Ignacio Málaga, Mar O’Callaghan et al. · 2011 · Mitochondrion
  36. Effect of morphine in vitro on oxidative phosphorylation in rat liver mitochondria
    Gegenava Gp, V. V. Chistyakov · 1975 · Bulletin of Experimental Biology and Medicine
  37. Effects of morphine on the Golgi apparatus and mitochondria of mammalian neurones.
    T A MOUSSA, el-Beih Zm · 1972 · PubMed
  38. Diagnostic criteria for primary progressive mutiple sclerosis: a position paper.
    2000 · Pure Amsterdam UMC
  39. Untitled work
    Khan · 2000 · 10.1002/1531-8249(200008)48:2