BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

113 related articles for article (PubMed ID: 7073250)

  • 1. Evidence for autosomal recessive inheritance in systemic carnitine deficiency.
    Di Donato S; Rimoldi M; Cornelio F; Bottacchi E; Giunta A
    Ann Neurol; 1982 Feb; 11(2):190-2. PubMed ID: 7073250
    [No Abstract]   [Full Text] [Related]  

  • 2. Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.
    Yilmaz BS; Kor D; Mungan NO; Erdem S; Ceylaner S
    J Pediatr Endocrinol Metab; 2015 Sep; 28(9-10):1179-81. PubMed ID: 26030785
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Carnitine in normal subjects and in pathology].
    Odièvre M
    Arch Fr Pediatr; 1984 Dec; 41(10):721-6. PubMed ID: 6398040
    [No Abstract]   [Full Text] [Related]  

  • 4. A case history of myopathic carnitine deficiency benefited by glucocorticoids and L-carnitine supplementation.
    Howard LJ; Beckerman AH
    Drug Nutr Interact; 1985; 3(4):191-6. PubMed ID: 4064927
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Familial systemic carnitine deficiency.
    Cruse RP; Di Mauro S; Towfighi J; Trevisan C
    Arch Neurol; 1984 Mar; 41(3):301-5. PubMed ID: 6696649
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Carnitine deficiency myopathy (author's transl)].
    Jerusalem F
    Nervenarzt; 1980 May; 51(5):266-71. PubMed ID: 7007897
    [No Abstract]   [Full Text] [Related]  

  • 7. Thirty-year follow-up of carnitine supplementation in two siblings with hypertrophic cardiomyopathy caused by primary systemic carnitine deficiency.
    Kishimoto S; Suda K; Yoshimoto H; Teramachi Y; Nishino H; Koteda Y; Itoh S; Kudo Y; Iemura M; Matsuishi T
    Int J Cardiol; 2012 Aug; 159(1):e14-5. PubMed ID: 22154200
    [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. Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.
    Deswal S; Bijarnia-Mahay S; Manocha V; Hara K; Shigematsu Y; Saxena R; Verma IC
    Indian J Pediatr; 2017 Jan; 84(1):83-85. PubMed ID: 27581592
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Primary carnitine deficiency in a male adult.
    Karmaniolas K; Ioannidis P; Liatis S; Dalamanga M; Papalambros T; Migdalis I
    J Med; 2002; 33(1-4):105-10. PubMed ID: 12939109
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course.
    Vielhaber S; Feistner H; Weis J; Kreuder J; Sailer M; Schröder JM; Kunz WS
    J Clin Neurosci; 2004 Nov; 11(8):919-24. PubMed ID: 15519880
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.
    Ziats MN; Comeaux MS; Yang Y; Scaglia F; Elsea SH; Sun Q; Beaudet AL; Schaaf CP
    Am J Med Genet A; 2015 Sep; 167A(9):2162-7. PubMed ID: 25943046
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
    Hitomi T; Matsuura N; Shigematsu Y; Okano Y; Shinozaki E; Kawai M; Kobayashi H; Harada KH; Koizumi A
    J Genet; 2015 Mar; 94(1):147-50. PubMed ID: 25846890
    [No Abstract]   [Full Text] [Related]  

  • 14. Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2.
    Mazzini M; Tadros T; Siwik D; Joseph L; Bristow M; Qin F; Cohen R; Monahan K; Klein M; Colucci W
    Cardiology; 2011; 120(1):52-8. PubMed ID: 22116472
    [TBL] [Abstract][Full Text] [Related]  

  • 15. SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management.
    Hu CW; Hu CH; Wu-Chou YH; Lo LJ
    J Craniofac Surg; 2018 Sep; 29(6):1601-1603. PubMed ID: 29750726
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Carnitine deficiency myopathy: a case of late diagnosis].
    Rico Corral MA; de la Vega Vázquez JM; Holgado Silva C; Aznar Martín A; Zamora Madaría E
    An Med Interna; 2002 Aug; 19(8):415-8. PubMed ID: 12244790
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disorders of lipid metabolism in muscle.
    Di Mauro S; Trevisan C; Hays A
    Muscle Nerve; 1980; 3(5):369-88. PubMed ID: 7421873
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sodium valproate -- induced skeletal myopathy.
    Kasturi L; Sawant SP
    Indian J Pediatr; 2005 Mar; 72(3):243-4. PubMed ID: 15812121
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Carnitine-deficient myopathy successfully treated with bicarnesine; clinico-chemical and muscle morphology studies].
    László A; Klujber L; Svékus A
    Orv Hetil; 1986 Mar; 127(13):777-9. PubMed ID: 3703543
    [No Abstract]   [Full Text] [Related]  

  • 20. Primary carnitine deficiency cardiomyopathy.
    Wang SS; Rao J; Li YF; Zhang ZW; Zeng GH
    Int J Cardiol; 2014 Jun; 174(1):171-3. PubMed ID: 24746540
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.