Long-term liver disease in methylmalonic and propionic acidemias.

[1]  C. Venditti,et al.  Methylmalonic and propionic acidemias: clinical management update , 2016, Current opinion in pediatrics.

[2]  J. Esplugues,et al.  The purine analogues abacavir and didanosine increase acetaminophen-induced hepatotoxicity by enhancing mitochondrial dysfunction. , 2016, The Journal of antimicrobial chemotherapy.

[3]  M. Baumgartner,et al.  Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders , 2016, Journal of Inherited Metabolic Disease.

[4]  L. Peruzzi,et al.  Liver transplantation in severe methylmalonic acidemia: The sooner, the better. , 2015, The Journal of pediatrics.

[5]  L. Peruzzi,et al.  Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia , 2015, Pediatrics.

[6]  G. Enns,et al.  Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. , 2015, The Journal of pediatrics.

[7]  M. Baumgartner,et al.  The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype , 2015, Journal of Inherited Metabolic Disease.

[8]  M. Baumgartner,et al.  The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation , 2015, Journal of Inherited Metabolic Disease.

[9]  V. Paradis,et al.  Performance of PIVKA-II for early hepatocellular carcinoma diagnosis and prediction of microvascular invasion. , 2015, Journal of hepatology.

[10]  A. Chakrapani,et al.  Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study , 2015, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

[11]  J. Higgins,et al.  Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia , 2014, Ultrastructural pathology.

[12]  Anita MacDonald,et al.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia , 2014, Orphanet Journal of Rare Diseases.

[13]  N. Boddaert,et al.  Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias , 2013, Orphanet Journal of Rare Diseases.

[14]  S. Kölker,et al.  Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation , 2013, Journal of Inherited Metabolic Disease.

[15]  M. Baumgartner,et al.  Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients , 2013, Orphanet Journal of Rare Diseases.

[16]  R. Kosaki,et al.  Living‐donor liver transplantation for propionic acidemia , 2012, Pediatric transplantation.

[17]  V. Sutton,et al.  Natural history of propionic acidemia. , 2012, Molecular genetics and metabolism.

[18]  M. Wajner,et al.  Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies , 2011, Journal of bioenergetics and biomembranes.

[19]  N. Boddaert,et al.  Long-term outcome in methylmalonic aciduria: a series of 30 French patients. , 2009, Molecular genetics and metabolism.

[20]  A. Munnich,et al.  Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria , 2009, Pediatric Research.

[21]  S. Dimauro,et al.  Mitochondrial dysfunction in mut methylmalonic acidemia , 2009, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[22]  A. Munnich,et al.  Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12 , 2009, Journal of Inherited Metabolic Disease.

[23]  G. Hoffmann,et al.  Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism. , 2008, Biochimica et biophysica acta.

[24]  A. Munnich,et al.  Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria. , 2008, Molecular genetics and metabolism.

[25]  G. Diaz,et al.  Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature. , 2009, Molecular genetics and metabolism.

[26]  N. Heaton,et al.  Auxiliary Liver Transplantation for Propionic Acidemia: A 10‐Year Follow‐Up , 2007, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

[27]  S. Uemoto,et al.  Current role of liver transplantation for methylmalonic acidemia: A review of the literature , 2006, Pediatric transplantation.

[28]  R. Rodenburg,et al.  Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. , 2006, The Biochemical journal.

[29]  F. Santorelli,et al.  Methylmalonic and propionic aciduria , 2006, American journal of medical genetics. Part C, Seminars in medical genetics.

[30]  M. Wajner,et al.  Differential inhibitory effects of methylmalonic acid on respiratory chain complex activities in rat tissues , 2006, International Journal of Developmental Neuroscience.

[31]  S. Cederbaum,et al.  Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. , 2005, Molecular genetics and metabolism.

[32]  M. Sarwal,et al.  Management of methylmalonic acidaemia by combined liver–kidney transplantation , 2005, Journal of Inherited Metabolic Disease.

[33]  D. Rabier,et al.  Methylmalonic and propionic acidaemias: Management and outcome , 2005, Journal of Inherited Metabolic Disease.

[34]  M. Nefedov,et al.  A Knock-out Mouse Model for Methylmalonic Aciduria Resulting in Neonatal Lethality* , 2003, Journal of Biological Chemistry.

[35]  M. Kazatchkine,et al.  Toxic effects of nucleoside reverse transcriptase inhibitors on the liver. Value of electron microscopy analysis for the diagnosis of mitochondrial cytopathy. , 2003, American journal of clinical pathology.

[36]  M. Wajner,et al.  Inhibition of the mitochondrial respiratory chain complex activities in rat cerebral cortex by methylmalonic acid , 2002, Neurochemistry International.

[37]  Y. Aoki,et al.  Fatal Propionic Acidemia in Mice Lacking Propionyl-CoA Carboxylase and Its Rescue by Postnatal, Liver-specific Supplementation via a Transgene* , 2001, The Journal of Biological Chemistry.

[38]  G. Erbaş,et al.  Normal liver, spleen, and kidney dimensions in neonates, infants, and children: evaluation with sonography. , 1998, AJR. American journal of roentgenology.

[39]  F. Watanabe,et al.  Methylmalonic acid inhibits respiration in rat liver mitochondria. , 1995, The Journal of nutrition.

[40]  E. Brass Interaction of carnitine and propionate with pyruvate oxidation by hepatocytes from clofibrate-treated rats: importance of coenzyme A availability. , 1992, The Journal of nutrition.

[41]  D. Stumpf,et al.  Propionate mitochondrial toxicity in liver and skeletal muscle: acyl CoA levels. , 1991, Biochemical medicine and metabolic biology.

[42]  E. Brass,et al.  Effects of propionate and carnitine on the hepatic oxidation of short- and medium-chain-length fatty acids. , 1988, The Biochemical journal.

[43]  K. Hayasaka,et al.  Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity. , 1982, The Tohoku journal of experimental medicine.