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 *

152 related articles for article (PubMed ID: 1315891)

  • 1. [Juvenile optic neuropathy caused by Km variants of biotinidase].
    Brab M; Ramaekers VT; Baumgartner ER; Heimann G; Reim M
    Klin Monbl Augenheilkd; 1992 Mar; 200(3):204-9. PubMed ID: 1315891
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Recovery from neurological deficits following biotin treatment in a biotinidase Km variant.
    Ramaekers VT; Brab M; Rau G; Heimann G
    Neuropediatrics; 1993 Apr; 24(2):98-102. PubMed ID: 8352834
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A biotinidase Km variant causing late onset bilateral optic neuropathy.
    Ramaekers VT; Suormala TM; Brab M; Duran R; Heimann G; Baumgartner ER
    Arch Dis Child; 1992 Jan; 67(1):115-9. PubMed ID: 1739323
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H].
    Nothjunge J; Krägeloh-Mann I; Suormala TM; Baumgartner ER
    Monatsschr Kinderheilkd; 1989 Nov; 137(11):737-40. PubMed ID: 2608075
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
    Baumgartner ER; Suormala T
    Int J Vitam Nutr Res; 1997; 67(5):377-84. PubMed ID: 9350481
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases.
    Coşkun T; Tokatli A; Ozalp I
    Turk J Pediatr; 1994; 36(4):267-78. PubMed ID: 7825232
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Biotinidase deficiency. Progressive encephalopathy curable with biotin].
    Héron B; Gautier A; Dulac O; Ponsot G
    Arch Fr Pediatr; 1993 Dec; 50(10):875-8. PubMed ID: 8053766
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Reversal of brain atrophy with biotin treatment in biotinidase deficiency.
    Bousounis DP; Camfield PR; Wolf B
    Neuropediatrics; 1993 Aug; 24(4):214-7. PubMed ID: 8232780
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.
    Rahman S; Standing S; Dalton RN; Pike MG
    Dev Med Child Neurol; 1997 Dec; 39(12):830-1. PubMed ID: 9433860
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Biotinidase deficiency: initial clinical features and rapid diagnosis.
    Wolf B; Heard GS; Weissbecker KA; McVoy JR; Grier RE; Leshner RT
    Ann Neurol; 1985 Nov; 18(5):614-7. PubMed ID: 4073853
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Biotinidase deficiency (late-onset multiple carboxylase deficiency)].
    Sakamoto O; Narisawa K
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):223-4. PubMed ID: 9645048
    [No Abstract]   [Full Text] [Related]  

  • 12. Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.
    Baumgartner ER; Suormala TM; Wick H; Probst A; Blauenstein U; Bachmann C; Vest M
    Pediatr Res; 1989 Sep; 26(3):260-6. PubMed ID: 2587127
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Biotinidase deficiency: a treatable genetic disorder in the Saudi population.
    Joshi S; al-Essa MA; Archibald A; Ozand PT
    East Mediterr Health J; 1999 Nov; 5(6):1213-7. PubMed ID: 11924114
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
    Bressman S; Fahn S; Eisenberg M; Brin M; Maltese W
    Adv Neurol; 1986; 43():119-25. PubMed ID: 3946108
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Biotinidase Km-variants: detection and detailed biochemical investigations.
    Suormala T; Ramaekers VT; Schweitzer S; Fowler B; Laub MC; Schwermer C; Bachmann J; Baumgartner ER
    J Inherit Metab Dis; 1995; 18(6):689-700. PubMed ID: 8750606
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
    Campana G; Valentini G; Legnaioli MI; Giovannucci-Uzielli ML; Pavari E
    Ophthalmic Paediatr Genet; 1987 Jun; 8(2):125-9. PubMed ID: 3658339
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Correlation between optic disc atrophy and aetiology: anterior ischaemic optic neuropathy vs optic neuritis.
    Rath EZ; Rehany U; Linn S; Rumelt S
    Eye (Lond); 2003 Nov; 17(9):1019-24. PubMed ID: 14704752
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses.
    Pomponio RJ; Hymes J; Pandya A; Landa B; Melone P; Javaheri R; Mardach R; Morton SW; Meyers GA; Reynolds T; Buck G; Nance WE; Wolf B
    Prenat Diagn; 1998 Feb; 18(2):117-22. PubMed ID: 9516011
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Neonatal screening for biotinidase deficiency.
    Forman DT; Bankson DD; Highsmith WE
    Ann Clin Lab Sci; 1992; 22(3):144-54. PubMed ID: 1503382
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Inborn errors of biotin metabolism.
    Nyhan WL
    Arch Dermatol; 1987 Dec; 123(12):1696-1698a. PubMed ID: 3318710
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.