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 *

227 related articles for article (PubMed ID: 1779651)

  • 1. Worldwide survey of neonatal screening for biotinidase deficiency.
    Wolf B
    J Inherit Metab Dis; 1991; 14(6):923-7. PubMed ID: 1779651
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Screening for biotinidase deficiency in newborns: worldwide experience.
    Wolf B; Heard GS
    Pediatrics; 1990 Apr; 85(4):512-7. PubMed ID: 2314964
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].
    Schweitzer S; Sander J; Suormala T; Baumgartner R; Byrd DJ; Brodehl J
    Monatsschr Kinderheilkd; 1991 Jun; 139(6):349-54. PubMed ID: 1896047
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Neonatal screening for biotinidase deficiency in east-Hungary.
    Havass Z
    J Inherit Metab Dis; 1991; 14(6):928-31. PubMed ID: 1779652
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Partial biotinidase deficiency: clinical and biochemical features.
    McVoy JR; Levy HL; Lawler M; Schmidt MA; Ebers DD; Hart PS; Pettit DD; Blitzer MG; Wolf B
    J Pediatr; 1990 Jan; 116(1):78-83. PubMed ID: 2295967
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Prevalence study of biotinidase deficiency in newborns].
    Pinto AL; Raymond KM; Bruck I; Antoniuk SA
    Rev Saude Publica; 1998 Apr; 32(2):148-52. PubMed ID: 9713119
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
    Möslinger D; Stöckler-Ipsiroglu S; Scheibenreiter S; Tiefenthaler M; Mühl A; Seidl R; Strobl W; Plecko B; Suormala T; Baumgartner ER
    Eur J Pediatr; 2001 May; 160(5):277-82. PubMed ID: 11388594
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity.
    Hart PS; Barnstein BO; Secor McVoy JR; Matalon R; Wolf B
    Biochem Med Metab Biol; 1992 Aug; 48(1):41-5. PubMed ID: 1524870
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
    Swango KL; Demirkol M; Hüner G; Pronicka E; Sykut-Cegielska J; Schulze A; Mayatepek E; Wolf B
    Hum Genet; 1998 May; 102(5):571-5. PubMed ID: 9654207
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
    Norrgard KJ; Pomponio RJ; Swango KL; Hymes J; Reynolds TR; Buck GA; Wolf B
    Biochem Mol Med; 1997 Jun; 61(1):22-7. PubMed ID: 9232193
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.
    Neto EC; Schulte J; Rubim R; Lewis E; DeMari J; Castilhos C; Brites A; Giugliani R; Jensen KP; Wolf B
    Braz J Med Biol Res; 2004 Mar; 37(3):295-9. PubMed ID: 15060693
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.
    Funghini S; Donati MA; Pasquini E; Gasperini S; Ciani F; Morrone A; Zammarchi E
    J Inherit Metab Dis; 2002 Aug; 25(4):328-30. PubMed ID: 12227467
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neonatal screening for biotinidase deficiency: results of a 1-year pilot study.
    Heard GS; Wolf B; Jefferson LG; Weissbecker KA; Nance WE; McVoy JR; Napolitano A; Mitchell PL; Lambert FW; Linyear AS
    J Pediatr; 1986 Jan; 108(1):40-6. PubMed ID: 3944695
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.
    Dunkel G; Scriver CR; Clow CL; Melançon S; Lemieux B; Grenier A; Laberge C
    J Inherit Metab Dis; 1989; 12(2):131-8. PubMed ID: 2502673
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A screening method for biotinidase deficiency in newborns.
    Heard GS; Secor McVoy JR; Wolf B
    Clin Chem; 1984 Jan; 30(1):125-7. PubMed ID: 6690118
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia.
    Tanzer F; Sancaktar M; Buyukkayhan D
    J Pediatr Endocrinol Metab; 2009 Dec; 22(12):1113-6. PubMed ID: 20333870
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency.
    Hart PS; Hymes J; Wolf B
    Pediatr Res; 1992 Mar; 31(3):261-5. PubMed ID: 1561012
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.
    László A; Schuler EA; Sallay E; Endreffy E; Somogyi C; Várkonyi A; Havass Z; Jansen KP; Wolf B
    J Inherit Metab Dis; 2003; 26(7):693-8. PubMed ID: 14707518
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.