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2. 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]
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]
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]
7. 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; 1(5-6):173-6. PubMed ID: 10728214 [TBL] [Abstract][Full Text] [Related]
8. 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]
10. [Results of a pilot study of neonatal screening for congenital biotinidase deficiency]. Sander J; Niehaus C Monatsschr Kinderheilkd; 1986 Oct; 134(10):729-32. PubMed ID: 3796633 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
14. Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. Holme E; Jacobson CE; Kristiansson B J Inherit Metab Dis; 1988; 11(3):270-6. PubMed ID: 3148068 [TBL] [Abstract][Full Text] [Related]
15. [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]
16. Biotinidase deficiency: metabolites in CSF. Fois A; Cioni M; Balestri P; Bartalini G; Baumgartner R; Bachmann C J Inherit Metab Dis; 1986; 9(3):284-5. PubMed ID: 3099073 [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. 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]