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Journal Abstract Search

119 related items for PubMed ID: 9168175

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  • 3. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.
    Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, Kennaway NG.
    Am J Hum Genet; 2000 Dec; 67(6):1400-10. PubMed ID: 11047755
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  • 4. Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.
    Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S.
    Am J Med Genet A; 2015 Jun; 167(6):1330-6. PubMed ID: 25899669
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  • 7. Skeletal muscle mitochondrial defects in nonspecific neurologic disorders.
    Marin-Garcia J, Ananthakrishnan R, Goldenthal MJ, Filiano JJ, Sarnat HB.
    Pediatr Neurol; 1999 Aug; 21(2):538-42. PubMed ID: 10465139
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  • 9. Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome.
    Fillano JJ, Goldenthal MJ, Rhodes CH, Marín-García J.
    J Child Neurol; 2002 Jun; 17(6):435-9. PubMed ID: 12174964
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  • 10. Fatal combined defects in mitochondrial multienzyme complexes in two siblings.
    Robinson BH, Chow W, Petrova-Benedict R, Clarke JT, Van Allen MI, Becker LE, Boulton JE, Ragan I.
    Eur J Pediatr; 1992 May; 151(5):347-52. PubMed ID: 1327797
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  • 12. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.
    Morgan-Hughes JA, Sweeney MG, Cooper JM, Hammans SR, Brockington M, Schapira AH, Harding AE, Clark JB.
    Biochim Biophys Acta; 1995 May 24; 1271(1):135-40. PubMed ID: 7599199
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  • 14. Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.
    Moreadith RW, Batshaw ML, Ohnishi T, Kerr D, Knox B, Jackson D, Hruban R, Olson J, Reynafarje B, Lehninger AL.
    J Clin Invest; 1984 Sep 24; 74(3):685-97. PubMed ID: 6432847
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  • 16. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE.
    Hum Pathol; 2016 Mar 24; 49():27-32. PubMed ID: 26826406
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  • 18. An overview of a cohort of South African patients with mitochondrial disorders.
    Smuts I, Louw R, du Toit H, Klopper B, Mienie LJ, van der Westhuizen FH.
    J Inherit Metab Dis; 2010 Dec 24; 33 Suppl 3():S95-104. PubMed ID: 20135231
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  • 20. A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.
    Odièvre MH, Lombès A, Dessemme P, Santer R, Brivet M, Chevallier B, Lagardère B, Odièvre M.
    J Inherit Metab Dis; 2002 Sep 24; 25(5):379-84. PubMed ID: 12408187
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