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2. Biotinidase deficiency: two cases of very early presentation. Haagerup A; Andersen JB; Blichfeldt S; Christensen MF Dev Med Child Neurol; 1997 Dec; 39(12):832-5. PubMed ID: 9433861 [TBL] [Abstract][Full Text] [Related]
3. Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype. Wolf B Eur J Pediatr; 2002 Mar; 161(3):167-8; author reply 169. PubMed ID: 11998918 [No Abstract] [Full Text] [Related]
4. 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]
9. 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]
10. Chronic vaginal candidiasis responsive to biotin therapy in a carrier of biotinidase deficiency. Strom CM; Levine EM Obstet Gynecol; 1998 Oct; 92(4 Pt 2):644-6. PubMed ID: 9764646 [TBL] [Abstract][Full Text] [Related]
11. Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency. Bakker HD; Westra M; Overweg-Plandsoen WC; van Waveren G; Sillevis Smitt JH; Abeling NG; Wanders RJ; Schutgens RB; van Gennip AH Eur J Pediatr; 1994 Nov; 153(11):861-2. PubMed ID: 7843204 [No Abstract] [Full Text] [Related]
12. 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]
13. Comparison of patients with complete and partial biotinidase deficiency: biochemical studies. Suormala TM; Baumgartner ER; Wick H; Scheibenreiter S; Schweitzer S J Inherit Metab Dis; 1990; 13(1):76-92. PubMed ID: 2109151 [TBL] [Abstract][Full Text] [Related]
14. [Biotinidase deficiency: disease with mainly neurocutaneous manifestations responding to biotin]. Marandian MH; Soltanabadi A; Lessani M; Kouchanfar A; Fallah A Ann Pediatr (Paris); 1987 Nov; 34(9):725-8. PubMed ID: 3426084 [No Abstract] [Full Text] [Related]
15. Neonatal screening for biotinidase deficiency in north eastern Italy. Burlina AB; Sherwood WG; Marchioro MV; Bernardina BD; Gaburro D Eur J Pediatr; 1988 Apr; 147(3):317-8. PubMed ID: 3391228 [TBL] [Abstract][Full Text] [Related]
16. Biotin deficiency complicating parenteral alimentation: diagnosis, metabolic repercussions, and treatment. Mock DM; Baswell DL; Baker H; Holman RT; Sweetman L Ann N Y Acad Sci; 1985; 447():314-34. PubMed ID: 3925860 [No Abstract] [Full Text] [Related]
17. Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin. Diamantopoulos N; Painter MJ; Wolf B; Heard GS; Roe C Neurology; 1986 Aug; 36(8):1107-9. PubMed ID: 3736876 [TBL] [Abstract][Full Text] [Related]
18. Cutaneous and neurologic manifestations of biotinidase deficiency. Navarro PC; Guerra A; Alvarez JG; Ortiz FJ Int J Dermatol; 2000 May; 39(5):363-5. PubMed ID: 10849128 [No Abstract] [Full Text] [Related]
19. 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]
20. Seventeen novel mutations that cause profound biotinidase deficiency. Wolf B; Jensen K; Hüner G; Demirkol M; Baykal T; Divry P; Rolland MO; Perez-Cerdá C; Ugarte M; Straussberg R; Basel-Vanagaite L; Baumgartner ER; Suormala T; Scholl S; Das AM; Schweitzer S; Pronicka E; Sykut-Cegielska J Mol Genet Metab; 2002; 77(1-2):108-11. PubMed ID: 12359137 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]