These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

73 related articles for article (PubMed ID: 1598114)

  • 1. Lethal neonatal deficiency of carnitine palmitoyltransferase 2.
    Scholte HR; van Tol A
    N Engl J Med; 1992 Jul; 327(1):56. PubMed ID: 1598114
    [No Abstract]   [Full Text] [Related]  

  • 2. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II.
    Hug G; Bove KE; Soukup S
    N Engl J Med; 1991 Dec; 325(26):1862-4. PubMed ID: 1961225
    [No Abstract]   [Full Text] [Related]  

  • 3. Neonatal carnitine palmitoyltransferase deficiency: a case with a muscular presentation.
    Land JM; Mistry S; Squier W; Hope P; Orford M; Saggerson ED
    Prog Clin Biol Res; 1992; 375():309-15. PubMed ID: 1438376
    [No Abstract]   [Full Text] [Related]  

  • 4. Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
    Vladutiu GD; Quackenbush EJ; Hainline BE; Albers S; Smail DS; Bennett MJ
    J Pediatr; 2002 Nov; 141(5):734-6. PubMed ID: 12410208
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency.
    Ylitalo K; Vänttinen T; Halmesmäki E; Tyni T
    Am J Obstet Gynecol; 2005 Jun; 192(6):2060-2. PubMed ID: 15970898
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria.
    Jakobs BS; Wanders RJ
    Biochem Biophys Res Commun; 1995 Aug; 213(3):1035-41. PubMed ID: 7654220
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Carnitine palmitoyltransferase I(CPT1) deficiency].
    Yorifuji S
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):401-2. PubMed ID: 9590082
    [No Abstract]   [Full Text] [Related]  

  • 8. [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]  

  • 9. 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]  

  • 10. [A case report of carnitine palmitoyltransferase II deficiency].
    Zhang LX; Gao PM
    Zhongguo Dang Dai Er Ke Za Zhi; 2009 Feb; 11(2):1p preceeding I. PubMed ID: 19222961
    [No Abstract]   [Full Text] [Related]  

  • 11. Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA beta-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines.
    Ventura FV; Costa CG; IJlst L; Dorland L; Duran M; Jakobs C; de Almeida IT; Wanders RJ
    J Inherit Metab Dis; 1997 Jul; 20(3):423-6. PubMed ID: 9266372
    [No Abstract]   [Full Text] [Related]  

  • 12. The long-chain acyl-CoA dehydrogenase deficiency.
    Hale DE; Stanley CA; Coates PM
    Prog Clin Biol Res; 1990; 321():303-11. PubMed ID: 2326295
    [No Abstract]   [Full Text] [Related]  

  • 13. Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.
    Invernizzi F; Burlina AB; Donadio A; Giordano G; Taroni F; Garavaglia B
    J Inherit Metab Dis; 2001 Oct; 24(5):601-2. PubMed ID: 11757589
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Carnitine palmitoyltransferase--structure/function/regulatory relationships.
    McGarry JD; Woeltje KF; Schroeder JG; Cox WF; Foster DW
    Prog Clin Biol Res; 1990; 321():193-208. PubMed ID: 2183232
    [No Abstract]   [Full Text] [Related]  

  • 15. Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency.
    Brucknerova I; Bzduch V; Behulova D; Ferianec V; Dubovicky M; Ujhazy E; Mach M
    Neuro Endocrinol Lett; 2008 Oct; 29(5):627-30. PubMed ID: 18987586
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Insights into the topography of mitochondrial carnitine palmitoyltransferase gained from the use of proteases.
    McGarry JD; Brown NF; Inthanousay PP; Park DI; Cook BA; Foster DW
    Prog Clin Biol Res; 1992; 375():47-61. PubMed ID: 1438389
    [No Abstract]   [Full Text] [Related]  

  • 17. Acute renal failure due to carnitine palmitoyltransferase II deficiency.
    Uzel B; Altiparmak MR; Ataman R; Serdengeçti K
    Neth J Med; 2003 Dec; 61(12):417-20. PubMed ID: 15025419
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. No carnitine palmitoyltransferase deficiency in skeletal muscle in 18 malignant hyperthermia susceptible individuals.
    Wieser T; Kraft B; Kress HG
    Neuromuscul Disord; 2008 Jun; 18(6):471-4. PubMed ID: 18430572
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Recurrent myoglobinuria in a girl due to carnitine palmitoyltransferase deficiency].
    Carrasco Marina LL; Ramos Lizana J; Vázquez López M; Garrote de Marcos JM; Arregui Sierra A; Bornstein B; Arenas J
    An Esp Pediatr; 1996 Jan; 44(1):67-9. PubMed ID: 8849066
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 4.