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Journal Abstract Search

181 related items for PubMed ID: 1763895

  • 1. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.
    Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, Saudubray JM, Haymond M, Trefz FK, Breningstall GN.
    Ann Neurol; 1991 Nov; 30(5):709-16. PubMed ID: 1763895
    [Abstract] [Full Text] [Related]

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

  • 3. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.
    Tein I, De Vivo DC, Bierman F, Pulver P, De Meirleir LJ, Cvitanovic-Sojat L, Pagon RA, Bertini E, Dionisi-Vici C, Servidei S.
    Pediatr Res; 1990 Sep; 28(3):247-55. PubMed ID: 2235122
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  • 4. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
    Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.
    Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
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  • 6. [Clinical protocols concerned with disorders of fatty acid beta oxidation].
    Kania M.
    Przegl Lek; 1994 Oct; 51(1):25-8. PubMed ID: 8208992
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  • 7. Carnitine deficiency disorders in children.
    Stanley CA.
    Ann N Y Acad Sci; 2004 Nov; 1033():42-51. PubMed ID: 15591002
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  • 12. A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
    Wang Y, Kelly MA, Cowan TM, Longo N.
    Hum Mutat; 2000 Nov; 15(3):238-45. PubMed ID: 10679939
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  • 13. Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet.
    Glasgow AM, Engel AG, Bier DM, Perry LW, Dickie M, Todaro J, Brown BI, Utter MF.
    Pediatr Res; 1983 May; 17(5):319-26. PubMed ID: 6682967
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  • 15. Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
    Purevsuren J, Kobayashi H, Hasegawa Y, Yamada K, Takahashi T, Takayanagi M, Fukao T, Fukuda S, Yamaguchi S.
    Anal Bioanal Chem; 2013 Feb; 405(4):1345-51. PubMed ID: 23143007
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  • 17. Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.
    Angelini C, Philippart M, Borrone C, Bresolin N, Cantini M, Lucke S.
    Ann Neurol; 1980 Jan; 7(1):5-10. PubMed ID: 7362208
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  • 18. Disorders of lipid metabolism in muscle.
    Di Mauro S, Trevisan C, Hays A.
    Muscle Nerve; 1980 Jan; 3(5):369-88. PubMed ID: 7421873
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