Variabilité clinique et conduite diagnostique des cytopathies mitochondriales : à propos d’une série de 18 cas pédiatriques

[1]  A. Munnich,et al.  Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. , 2007, The Journal of pediatrics.

[2]  P. Rustin,et al.  Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients. , 2006, The Journal of pediatrics.

[3]  J. Bonham,et al.  The significance of reduced respiratory chain enzyme activities: clinical, biochemical and radiological associations. , 2006, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[4]  B. Wong,et al.  Investigation of children for mitochondriopathy confirms need for strict patient selection, improved morphological criteria, and better laboratory methods. , 2006, Human pathology.

[5]  K. Vesela,et al.  Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency , 2006, Pediatric Research.

[6]  M. Schapiro,et al.  Brain MRI and Proton MRS Findings in Infants and Children with Respiratory Chain Defects , 2005, Neuropediatrics.

[7]  F. Gottrand,et al.  Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. , 2005, Journal of hepatology.

[8]  D. Thorburn,et al.  The Importance of Liver Biopsy in the Investigation of Possible Mitochondrial Respiratory Chain Disease , 2005, Neuropediatrics.

[9]  J. Belmont,et al.  Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease , 2004, Pediatrics.

[10]  D. Thorburn,et al.  Respiratory chain enzyme analysis in muscle and liver. , 2004, Mitochondrion.

[11]  R. Rodenburg,et al.  Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects. , 2004, Mitochondrion.

[12]  D. Thorburn,et al.  Mitochondrial disorders: Prevalence, myths and advances , 2004, Journal of Inherited Metabolic Disease.

[13]  J. Smeitink,et al.  Mitochondrial disorders: Clinical presentation and diagnostic dilemmas , 2003, Journal of Inherited Metabolic Disease.

[14]  A. Rötig,et al.  Renal involvement in mitochondrial cytopathies , 1996, Pediatric Nephrology.

[15]  A. Munnich,et al.  Revisiting Pitfalls, Problems and Tentative Solutions for Assaying [General Articles] Mitochondrial Respiratory Chain Complex III in Human Samples , 2004 .

[16]  D. Thorburn,et al.  Minimum birth prevalence of mitochondrial respiratory chain disorders in children. , 2003, Brain : a journal of neurology.

[17]  M. Odièvre,et al.  Cytopathies mitochondriales secondaires chez l’enfant : concept récent, concept d’avenir ? , 2003 .

[18]  O. Dulac,et al.  Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation. , 2003, Neuropediatrics.

[19]  B. Echenne,et al.  Les myopathies mitochondriales :leurs aspects cliniques, biologiques, morphologiques et moléculaires , 2002 .

[20]  A. Munnich,et al.  Clinical spectrum and diagnosis of mitochondrial disorders. , 2001, American journal of medical genetics.

[21]  C. Marsac Techniques biochimiques de diagnostic , 1999 .

[22]  S. Nguyen,et al.  Pathologies mitochondriales à expression neurologique , 1999 .

[23]  M. Vidailhet,et al.  Myocardiopathies mitochondriales de l’enfant , 1999 .

[24]  P. Rustin,et al.  A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency , 1998, Journal of the Neurological Sciences.