Mitochondrial disease criteria
暂无分享,去创建一个
R. Rodenburg | L. V. D. Heuvel | J. Smeitink | L. P. Van den Heuvel | M. Vries | E. Morava | R. Rodenburg | M. D. De Vries | F. Hol | M. Hogeveen | J. Smeitink
[1] R. Rodenburg,et al. Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. , 2006, Clinical chemistry.
[2] D. Thorburn,et al. Decreased activities of mitochondrial respiratory chain complexes in non‐mitochondrial respiratory chain diseases , 2006, Developmental medicine and child neurology.
[3] R. Artuch,et al. Hyperlactatemia in Human Immunodeficiency Virus–Uninfected Infants Who Are Exposed to Antiretrovirals , 2004, Pediatrics.
[4] L. Faivre,et al. Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition , 2004, Journal of Inherited Metabolic Disease.
[5] D. Thorburn,et al. Mitochondrial disorders: Prevalence, myths and advances , 2004, Journal of Inherited Metabolic Disease.
[6] J. Smeitink,et al. Mitochondrial disorders: Clinical presentation and diagnostic dilemmas , 2003, Journal of Inherited Metabolic Disease.
[7] E. Wirrell,et al. Prolonged Neonatal Seizures Exacerbate Hypoxic-Ischemic Brain Damage: Correlation with Cerebral Energy Metabolism and Excitatory Amino Acid Release , 2003, Developmental Neuroscience.
[8] R. Djaldetti,et al. Familial infantile bilateral striatal necrosis: Clinical features and response to biotin treatment , 2002, Neurology.
[9] N. Brahmi,et al. Hyperlactatemia and hyperammonemia as secondary effects of valproic acid poisoning. , 2000, The American journal of emergency medicine.
[10] A. Verbeek,et al. A Prognostic Index as Diagnostic Strategy in Children Suspected of Mitochondriocytopathy , 2000, Neuropediatrics.
[11] B. Echenne,et al. Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases. , 1989, Neuropediatrics.
[12] R. Lowry. Early onset of Cockayne syndrome. , 1982, American journal of medical genetics.
[13] D. Howse. Metabolic responses to status epilepticus in the rat, cat, and mouse. , 1979, Canadian journal of physiology and pharmacology.
[14] Massimo Zeviani,et al. Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. , 2006, Cell metabolism.