BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 7564252)

  • 1. Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria.
    Besley GT; Lendon M; Broadhead DM; Till J; Heptinstall LE; Phillips B
    J Inherit Metab Dis; 1995; 18(2):221-3. PubMed ID: 7564252
    [No Abstract]   [Full Text] [Related]  

  • 2. Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.
    Sato T; Muroya K; Hanakawa J; Iwano R; Asakura Y; Tanaka Y; Murayama K; Ohtake A; Hasegawa T; Adachi M
    Eur J Pediatr; 2015 Dec; 174(12):1593-602. PubMed ID: 26074369
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.
    Ibel H; Endres W; Hadorn HB; Deufel T; Paetzke I; Duran M; Kennaway NG; Gibson KM
    Eur J Pediatr; 1993 Aug; 152(8):665-70. PubMed ID: 7691603
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
    Wortmann SB; Kluijtmans LA; Rodenburg RJ; Sass JO; Nouws J; van Kaauwen EP; Kleefstra T; Tranebjaerg L; de Vries MC; Isohanni P; Walter K; Alkuraya FS; Smuts I; Reinecke CJ; van der Westhuizen FH; Thorburn D; Smeitink JA; Morava E; Wevers RA
    J Inherit Metab Dis; 2013 Nov; 36(6):913-21. PubMed ID: 23355087
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria.
    Holme E; Greter J; Jacobson CE; Larsson NG; Lindstedt S; Nilsson KO; Oldfors A; Tulinius M
    Pediatr Res; 1992 Dec; 32(6):731-5. PubMed ID: 1287564
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'.
    Elpeleg ON; Meiron D; Barash V; Hurwitz Y; Tal I; Amir N
    J Inherit Metab Dis; 1990; 13(2):235-6. PubMed ID: 2116558
    [No Abstract]   [Full Text] [Related]  

  • 7. 3-Methylglutaconic aciduria: neonatal onset with lactic acidosis.
    Largilliere C; Vallee L; Cartigny B; Dubos JP; Gibson KM; Nuyts JP; Farriaux JP
    J Inherit Metab Dis; 1989; 12(3):333-4. PubMed ID: 2515379
    [No Abstract]   [Full Text] [Related]  

  • 8. 3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.
    Di Rocco M; Caruso U; Moroni I; Lupino S; Lamantea E; Fantasia AR; Borrone C; Gibson KM
    J Inherit Metab Dis; 1999 Jun; 22(5):593-8. PubMed ID: 10399091
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
    Di Rosa G; Deodato F; Loupatty FJ; Rizzo C; Carrozzo R; Santorelli FM; Boenzi S; D'Amico A; Tozzi G; Bertini E; Maiorana A; Wanders RJ; Dionisi-Vici C
    J Inherit Metab Dis; 2006 Aug; 29(4):546-50. PubMed ID: 16736096
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia.
    Takei Y; Ikeda S; Yanagisawa N; Takahashi W; Sekiguchi M; Hayashi T
    Muscle Nerve; 1995 Nov; 18(11):1321-5. PubMed ID: 7565930
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Subdural hematoma and glutaric aciduria type 1.
    Drigo P; Burlina AB; Battistella PA
    Brain Dev; 1993; 15(6):460-1. PubMed ID: 8147506
    [No Abstract]   [Full Text] [Related]  

  • 12. MRI in 3-methylglutaconic aciduria type 1.
    Arbelaez A; Castillo M; Stone J
    Neuroradiology; 1999 Dec; 41(12):941-2. PubMed ID: 10639672
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Subdural haematoma in a child with glutaric aciduria type I.
    Köhler M; Hoffmann GF
    Pediatr Radiol; 1998 Aug; 28(8):582. PubMed ID: 9716626
    [No Abstract]   [Full Text] [Related]  

  • 14. Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation.
    Campos Y; García A; Eiris J; Fuster M; Rubio JC; Martín MA; del Hoyo P; Pintos E; Castro-Gago M; Arenas J
    J Inherit Metab Dis; 2001 Nov; 24(6):685-7. PubMed ID: 11768589
    [No Abstract]   [Full Text] [Related]  

  • 15. Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
    Shchelochkov OA; Li FY; Wang J; Zhan H; Towbin JA; Jefferies JL; Wong LJ; Scaglia F
    Mol Genet Metab; 2010; 101(2-3):282-5. PubMed ID: 20728387
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 3-Methylglutaconic aciduria associated with hepatosplenomegaly, macrocytic anaemia, fever episodes, recurrent infections, cervical lymphadenopathy and progressive decrease of physical performance.
    Holtmann MH; Galle PR; Stremmel W; Mayatepek E
    J Inherit Metab Dis; 1998 Aug; 21(6):683-5. PubMed ID: 9762609
    [No Abstract]   [Full Text] [Related]  

  • 17. D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle.
    Baker NS; Sarnat HB; Jack RM; Patterson K; Shaw DW; Herndon SP
    J Child Neurol; 1997 Jan; 12(1):31-6. PubMed ID: 9010793
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Multiple syndromes of 3-methylglutaconic aciduria.
    Gibson KM; Elpeleg ON; Jakobs C; Costeff H; Kelley RI
    Pediatr Neurol; 1993; 9(2):120-3. PubMed ID: 8499040
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset.
    Eriguchi M; Mizuta H; Kurohara K; Kosugi M; Yakushiji Y; Okada R; Yukitake M; Hasegawa Y; Yamaguchi S; Kuroda Y
    Neurology; 2006 Nov; 67(10):1895-6. PubMed ID: 17130438
    [No Abstract]   [Full Text] [Related]  

  • 20. Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.
    Østergaard E; Wibrand F; Ørngreen MC; Vissing J; Horn N
    Neurology; 2005 Sep; 65(6):931-3. PubMed ID: 16186538
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.