BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 2172644)

  • 1. Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.
    Hoffmann GF; Hunneman DH; Jakobs C; Wilichowski E; Eber SW; Hanefeld F; Rating D; Reichmann H
    J Inherit Metab Dis; 1990; 13(3):337-40. PubMed ID: 2172644
    [No Abstract]   [Full Text] [Related]  

  • 2. Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.
    Harpey JP; Charpentier C; Coudé M; Divry P; Paturneau-Jouas M
    J Pediatr; 1987 Jun; 110(6):881-4. PubMed ID: 3585604
    [No Abstract]   [Full Text] [Related]  

  • 3. Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.
    Di Donato S; Rimoldi M; Garavaglia B; Uziel G
    Clin Chim Acta; 1984 May; 139(1):13-21. PubMed ID: 6723070
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.
    Garavaglia B; Colamaria V; Carrara F; Tonin P; Rimoldi M; Uziel G
    J Inherit Metab Dis; 1994; 17(3):301-3. PubMed ID: 7807937
    [No Abstract]   [Full Text] [Related]  

  • 5. Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.
    Müller-Höcker J; Pongratz D; Deufel T; Trijbels JM; Endres W; Hübner G
    Virchows Arch A Pathol Anat Histopathol; 1983; 399(1):11-23. PubMed ID: 6298999
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.
    Rinaldo P; Welch RD; Previs SF; Schmidt-Sommerfeld E; Gargus JJ; O'Shea JJ; Zinn AB
    Pediatr Res; 1991 Sep; 30(3):216-21. PubMed ID: 1945558
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.
    Lehnert W; Ruitenbeek W
    J Inherit Metab Dis; 1993; 16(3):557-9. PubMed ID: 7609451
    [No Abstract]   [Full Text] [Related]  

  • 8. Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency.
    García-Silva MT; Campos Y; Ribes A; Briones P; Cabello A; Santos Borbujo J; Arenas J; Garavaglia B
    J Pediatr; 1994 Nov; 125(5 Pt 1):843-4. PubMed ID: 7965445
    [No Abstract]   [Full Text] [Related]  

  • 9. Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.
    Nowaczyk MJ; Lehotay DC; Platt BA; Fisher L; Tan R; Phillips H; Clarke JT
    Metabolism; 1998 Jul; 47(7):836-9. PubMed ID: 9667231
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Carnitine deficiency in inborn errors of metabolism].
    Sela BA; Lerman-Sagie T; Berkovitz M
    Harefuah; 1997 Nov; 133(10):419-23, 504. PubMed ID: 9418309
    [TBL] [Abstract][Full Text] [Related]  

  • 11. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
    Stanley CA
    Adv Pediatr; 1987; 34():59-88. PubMed ID: 3318304
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The urinary excretion of ethylmalonic acid: what level requires further attention?
    Duran M; Walther FJ; Bruinvis L; Wadman SK
    Biochem Med; 1983 Apr; 29(2):171-5. PubMed ID: 6860317
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Carnitine metabolism and inborn errors.
    Engel AG; Rebouche CJ
    J Inherit Metab Dis; 1984; 7 Suppl 1():38-43. PubMed ID: 6434843
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.
    García-Silva MT; Ribes A; Campos Y; Garavaglia B; Arenas J
    Pediatr Neurol; 1997 Sep; 17(2):165-70. PubMed ID: 9367300
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Methylmalonic aciduria. A newly discovered inborn error.
    Barness LA; Morrow G
    Ann Intern Med; 1968 Sep; 69(3):633-5. PubMed ID: 5673182
    [No Abstract]   [Full Text] [Related]  

  • 16. Methylmalonyl coenzyme A racemase defect: another cause of methylmalonic aciduria.
    Kang ES; Snodgrass PJ; Gerald PS
    Pediatr Res; 1972 Dec; 6(12):875-9. PubMed ID: 4643536
    [No Abstract]   [Full Text] [Related]  

  • 17. [Mitochondrial metabolism disorders and their implications for the locomotor system and heart. I].
    Marchiori PE; Gauditano G; de Mendonça LL; Scaff M; Ramires JA
    Arq Bras Cardiol; 1989 Apr; 52(4):227-32. PubMed ID: 2690781
    [No Abstract]   [Full Text] [Related]  

  • 18. Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy.
    Ozand PT; Rashed M; Millington DS; Sakati N; Hazzaa S; Rahbeeni Z; al Odaib A; Youssef N; Mazrou A; Gascon GG
    Brain Dev; 1994 Nov; 16 Suppl():12-22. PubMed ID: 7726376
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
    Burlina AB; Dionisi-Vici C; Bennett MJ; Gibson KM; Servidei S; Bertini E; Hale DE; Schmidt-Sommerfeld E; Sabetta G; Zacchello F
    J Pediatr; 1994 Jan; 124(1):79-86. PubMed ID: 8283379
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Metabolic myopathies in childhood. A review in summarized form].
    Schaub J
    Monatsschr Kinderheilkd; 1984 Aug; 132(8):566-73. PubMed ID: 6090889
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.