Research Topics
| Richard H HaasSummaryAffiliation: University of California Country: USA Publications
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Publications
Autism and mitochondrial diseaseRichard H Haas
Department of Neurosciences, UCSD Mitochondrial and Metabolic Disease Center, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
Dev Disabil Res Rev 16:144-53. 2010..Some patients with ASD phenotypes clearly have genetic-based primary mitochondrial disease. This review will examine the data linking autism and mitochondria...
The evidence basis for coenzyme Q therapy in oxidative phosphorylation diseaseRichard H Haas
Department of Neurosciences, UCSD Mitochondrial and Metabolic Disease Center, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0935, USA
Mitochondrion 7:S136-45. 2007..This paper discusses the current state of the evidence supporting the use of CoQ10 in mitochondrial disease...
The in-depth evaluation of suspected mitochondrial diseaseRichard H Haas
Department of Neurosciences, University of California San Diego, La Jolla, CA and Rady Children s Hospital San Diego, San Diego, CA, United States
Mol Genet Metab 94:16-37. 2008..The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease...
Mitochondrial disease: a practical approach for primary care physiciansRichard H Haas
Department of Neurosciences, University of California San Diego, 9500 Gilman Dr, La Jolla, CA 92093 0935, USA
Pediatrics 120:1326-33. 2007....
Chronic treatment of mitochondrial disease patients with dichloroacetateBruce A Barshop
Department of Pediatrics, University of California San Diego, La Jolla, CA 92093 0830, USA
Mol Genet Metab 83:138-49. 2004....
Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutationKok Seong Lim
Department of Neurosciences, School of Medicine, University of California San Diego, La Jolla, California, USA
J Mol Diagn 10:102-8. 2008....
Impact of nucleoside reverse transcriptase inhibitors on mitochondrial DNA and RNA in human skeletal muscle cellsAkihiko Saitoh
Division of Infectious Diseases, Department of Pediatrics, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0672, USA
Antimicrob Agents Chemother 52:2825-30. 2008..These findings may be of particular importance in developing countries, where ddI is widely used for first-line treatment of HIV-infected children...
The role of methionine in ethylmalonic encephalopathy with petechiaeKaren A McGowan
Institute of Molecular Genetics and the Department of Pediatrics, University of California San Diego, La Jolla 92093, USA
Arch Neurol 61:570-4. 2004..Restriction of the dietary intake of methionine decreased ethylmalonic acid excretion. CONCLUSION: In ethylmalonic acid encephalopathy with petechiae, methionine is a precursor of ethylmalonic acid...
Pyruvate carboxylase deficiency--insights from liver transplantationWilliam L Nyhan
Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA
Mol Genet Metab 77:143-9. 2002..Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation...
Quantitative mitochondrial DNA mutation analysis by denaturing HPLCKok Seong Lim
Department of Neurosciences, School of Medicine, University of California San Diego, La Jolla, CA 92093 0935, USA
Clin Chem 53:1046-52. 2007..The quantification and mathematical modeling of DHPLC results is, however, underexplored...
Normal platelet mitochondrial complex I activity in Huntington's diseaseWilliam J Powers
Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
Neurobiol Dis 27:99-101. 2007..Reductions > 10% were excluded with 80% confidence. A systemic defect in complex I activity is not present in early HD when striatal neuronal degeneration is already present...
