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 *

137 related articles for article (PubMed ID: 8278163)

  • 1. Ophthalmologic findings in biotinidase deficiency.
    Salbert BA; Astruc J; Wolf B
    Ophthalmologica; 1993; 206(4):177-81. PubMed ID: 8278163
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterization of seizures associated with biotinidase deficiency.
    Salbert BA; Pellock JM; Wolf B
    Neurology; 1993 Jul; 43(7):1351-5. PubMed ID: 8327137
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Phenotypic variation in biotinidase deficiency.
    Wolf B; Grier RE; Allen RJ; Goodman SI; Kien CL; Parker WD; Howell DM; Hurst DL
    J Pediatr; 1983 Aug; 103(2):233-7. PubMed ID: 6875714
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.
    Pomponio RJ; Reynolds TR; Cole H; Buck GA; Wolf B
    Nat Genet; 1995 Sep; 11(1):96-8. PubMed ID: 7550325
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.
    Wolf B; Heard GS; Jefferson LG; Proud VK; Nance WE; Weissbecker KA
    N Engl J Med; 1985 Jul; 313(1):16-9. PubMed ID: 4000223
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
    Pomponio RJ; Hymes J; Reynolds TR; Meyers GA; Fleischhauer K; Buck GA; Wolf B
    Pediatr Res; 1997 Dec; 42(6):840-8. PubMed ID: 9396567
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. [Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia].
    Anger H; Lorenz K; Cobet G
    Psychiatr Neurol Med Psychol (Leipz); 1990 Mar; 42(3):163-6. PubMed ID: 2356250
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
    Norrgard KJ; Pomponio RJ; Hymes J; Wolf B
    Pediatr Res; 1999 Jul; 46(1):20-7. PubMed ID: 10400129
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
    Gannavarapu S; Prasad C; DiRaimo J; Napier M; Goobie S; Potter M; Chakraborty P; Karaceper M; Munoz T; Schulze A; MacKenzie J; Li L; Geraghty MT; Al-Dirbashi OY; Rupar CA
    Mol Genet Metab; 2015 Nov; 116(3):146-51. PubMed ID: 26361991
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities.
    Sutherland SJ; Olsen RD; Michels V; Schmidt MA; O'Brien JF
    Clin Pediatr (Phila); 1991 Feb; 30(2):81-4. PubMed ID: 1706649
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. The neurology of biotinidase deficiency.
    Wolf B
    Mol Genet Metab; 2011; 104(1-2):27-34. PubMed ID: 21696988
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biotinidase deficiency: a survey of 10 cases.
    Wastell HJ; Bartlett K; Dale G; Shein A
    Arch Dis Child; 1988 Oct; 63(10):1244-9. PubMed ID: 3196050
    [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. Biotinidase deficiency.
    Wolf B; Heard GS
    Adv Pediatr; 1991; 38():1-21. PubMed ID: 1927696
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.