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2. [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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
14. Neonatal screening for biotinidase deficiency. Forman DT; Bankson DD; Highsmith WE Ann Clin Lab Sci; 1992; 22(3):144-54. PubMed ID: 1503382 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results. Suormala T; Wick H; Baumgartner ER Eur J Pediatr; 1988 Jun; 147(5):478-80. PubMed ID: 3409923 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. [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]
20. Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency. Hymes J; Fleischhauer K; Wolf B Biochem Mol Med; 1995 Oct; 56(1):76-83. PubMed ID: 8593541 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]