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 *

132 related articles for article (PubMed ID: 9266401)

  • 1. Adenylosuccinase deficiency presenting with epilepsy in early infancy.
    Maaswinkel-Mooij PD; Laan LA; Onkenhout W; Brouwer OF; Jaeken J; Poorthuis BJ
    J Inherit Metab Dis; 1997 Aug; 20(4):606-7. PubMed ID: 9266401
    [No Abstract]   [Full Text] [Related]  

  • 2. A new case of dihydropyrimidine dehydrogenase deficiency.
    Brockstedt M; Jakobs C; Smit LM; van Gennip AH; Berger R
    J Inherit Metab Dis; 1990; 13(1):121-4. PubMed ID: 2109146
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and biochemical findings in six patients with pyrimidine degradation defects.
    van Gennip AH; Abeling NG; Stroomer AE; van Lenthe H; Bakker HD
    J Inherit Metab Dis; 1994; 17(1):130-2. PubMed ID: 8051923
    [No Abstract]   [Full Text] [Related]  

  • 4. Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients.
    Sebesta I; Krijt J; Kmoch S; Hartmannová H; Wojda M; Zeman J
    J Inherit Metab Dis; 1997 Jul; 20(3):343-4. PubMed ID: 9266351
    [No Abstract]   [Full Text] [Related]  

  • 5. Progressive seizures with hyperuricosuria reversed by allopurinol.
    Coleman M; Landgrebe M; Landgrebe A
    Arch Neurol; 1974 Oct; 31(4):238-42. PubMed ID: 4415328
    [No Abstract]   [Full Text] [Related]  

  • 6. Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.
    van den Bergh FA; Bosschaart AN; Hageman G; Duran M; Tien Poll-The B
    Neuropediatrics; 1998 Feb; 29(1):51-3. PubMed ID: 9553952
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation.
    Fiumara A; van Kuilenburg AB; Caruso U; Nucifora C; Marzullo E; Barone R; Meli C; van Gennip AH
    J Inherit Metab Dis; 2003; 26(4):407-9. PubMed ID: 12971429
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.
    Van den Berghe G; Vincent MF; Jaeken J
    J Inherit Metab Dis; 1997 Jun; 20(2):193-202. PubMed ID: 9211192
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Paraclinical explorations in epilepsies].
    Derambure P
    Presse Med; 2011 Mar; 40(3):265-70. PubMed ID: 21333484
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Muscle energy metabolism in human adenylosuccinase deficiency. An in vivo 31P-NMR spectroscopy study.
    Salerno C; Iotti S; Lodi R; Crifò C; Barbiroli B
    Adv Exp Med Biol; 1998; 431():275-8. PubMed ID: 9598074
    [No Abstract]   [Full Text] [Related]  

  • 11. Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine.
    Haggard ME; Lockhart LH
    Am J Dis Child; 1967 Jun; 113(6):733-40. PubMed ID: 6026580
    [No Abstract]   [Full Text] [Related]  

  • 12. Altered pyridine metabolism in the erythrocytes of a mentally retarded infant with partial HPRT deficiency.
    Micheli V; Pescaglini M; Rocchigiani M; Sestini S; Jacomelli G; Hayek G; Pompucci G
    Adv Exp Med Biol; 1994; 370():349-52. PubMed ID: 7660925
    [No Abstract]   [Full Text] [Related]  

  • 13. The challenge of epilepsy control in deprived settings: low compliance and high fatality rates during a community-based phenobarbital program in rural Laos.
    Tran DS; Zen J; Strobel M; Odermatt P; Preux PM; Huc P; Delneuville L; Barennes H
    Epilepsia; 2008 Mar; 49(3):539-40. PubMed ID: 18302629
    [No Abstract]   [Full Text] [Related]  

  • 14. Medical options in the treatment of generalised seizures in adults.
    Callaghan N
    Ir Med J; 1995; 88(6):193, 195. PubMed ID: 8575913
    [No Abstract]   [Full Text] [Related]  

  • 15. Genetic basis of adenylosuccinase deficiency in an Italian patient.
    Verginelli D; Luckow B; Salerno C; Gross M
    Adv Exp Med Biol; 1998; 431():323-5. PubMed ID: 9598084
    [No Abstract]   [Full Text] [Related]  

  • 16. [Idiopathic epilepsy with generalized seizures in early childhood].
    Gross-Selbeck G
    Monatsschr Kinderheilkd; 1992 Aug; 140(8):451-6. PubMed ID: 1435803
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Substrate stabilization: genetically-controlled reciprocal relationship between two enzymes.
    Boyle JA; Green ML; Seegmiller JE
    Ann Rheum Dis; 1971 May; 30(3):326-7. PubMed ID: 4326237
    [No Abstract]   [Full Text] [Related]  

  • 18. Amelioration of neurologic abnormalities after "enzyme replacement" in adenosine deaminase deficiency.
    Hirschhorn R; Paageorgiou PS; Kesarwala HH; Taft LT
    N Engl J Med; 1980 Aug; 303(7):377-80. PubMed ID: 6156414
    [No Abstract]   [Full Text] [Related]  

  • 19. The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Emmerson BT; Thompson L
    Q J Med; 1973 Apr; 42(166):423-40. PubMed ID: 4785440
    [No Abstract]   [Full Text] [Related]  

  • 20. Hereditary orotic aciduria.
    Soutter GB; Yu J; Lovric A; Stapleton T
    Aust Paediatr J; 1970 Mar; 6(1):47-52. PubMed ID: 5520435
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.