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Journal Abstract Search

133 related items for PubMed ID: 8138076

  • 1. Biotinidase deficiency: early neurological presentation.
    Collins JE, Nicholson NS, Dalton N, Leonard JV.
    Dev Med Child Neurol; 1994 Mar; 36(3):268-70. PubMed ID: 8138076
    [Abstract] [Full Text] [Related]

  • 2. Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.
    Mitchell G, Ogier H, Munnich A, Saudubray JM, Shirrer J, Charpentier C, Rocchiccioli F.
    Neuropediatrics; 1986 Aug; 17(3):129-31. PubMed ID: 3762868
    [Abstract] [Full Text] [Related]

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

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

  • 5. [Biotinidase deficiency. Its form of presentation and response to treatment].
    Campistol J, Vilaseca MA, Ribes A, Riudor E.
    An Esp Pediatr; 1996 Apr; 44(4):389-92. PubMed ID: 8796946
    [No Abstract] [Full Text] [Related]

  • 6. [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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. [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
    [Abstract] [Full Text] [Related]

  • 10. [Biotinidase deficiency].
    Casado de Frías E.
    An R Acad Nac Med (Madr); 1997 Dec; 114(4):817-27; discussion 827-8. PubMed ID: 9616944
    [No Abstract] [Full Text] [Related]

  • 11. Biotinidase deficiency: result of treatment with biotin from age 12 years.
    Casado de Frías E, Campos-Castelló J, Careaga Maldonado J, Pérez Cerdá C.
    Eur J Paediatr Neurol; 1997 Dec; 1(5-6):173-6. PubMed ID: 10728214
    [Abstract] [Full Text] [Related]

  • 12. [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
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Biotinidase deficiency.
    Wolf B, Heard GS.
    Adv Pediatr; 1991 Dec; 38():1-21. PubMed ID: 1927696
    [No Abstract] [Full Text] [Related]

  • 16. Multiple carboxylase deficiency due to deficiency of biotinidase.
    Thuy LP, Zielinska B, Zammarchi E, Pavari E, Vierucci A, Sweetman F, Sweetman L, Nyhan WL.
    J Neurogenet; 1986 Nov; 3(6):357-63. PubMed ID: 3783319
    [Abstract] [Full Text] [Related]

  • 17. Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia.
    Bay CA, Berry GT, Glauser TA, Hayward JC, Wolf B, Sladky JT, Kaplan P.
    J Inherit Metab Dis; 1995 Nov; 18(6):701-4. PubMed ID: 8750607
    [Abstract] [Full Text] [Related]

  • 18. Biotinidase deficiency--a treatable entity.
    Gulati S, Passi GR, Kumar A, Kabra M, Kalra V, Verma IC.
    Indian J Pediatr; 2000 Jun; 67(6):464-6. PubMed ID: 10932969
    [Abstract] [Full Text] [Related]

  • 19. "Cerebral" lactic acidosis and biotinidase deficiency.
    Jaeken J, Casaer P.
    Eur J Pediatr; 1988 Nov; 148(2):175. PubMed ID: 3234447
    [No Abstract] [Full Text] [Related]

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

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