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7. 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]
8. Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. Wolf B; Heard GS; Jefferson LG; Proud VK; Nance WE; Weissbecker KA N Engl J Med; 1985 Jul; 313(1):16-9. PubMed ID: 4000223 [TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses. Pomponio RJ; Hymes J; Pandya A; Landa B; Melone P; Javaheri R; Mardach R; Morton SW; Meyers GA; Reynolds T; Buck G; Nance WE; Wolf B Prenat Diagn; 1998 Feb; 18(2):117-22. PubMed ID: 9516011 [TBL] [Abstract][Full Text] [Related]
10. Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. Coşkun T; Tokatli A; Ozalp I Turk J Pediatr; 1994; 36(4):267-78. PubMed ID: 7825232 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency. Chan PW; Bartlett K Clin Chim Acta; 1986 Sep; 159(2):185-96. PubMed ID: 3095002 [TBL] [Abstract][Full Text] [Related]
14. 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]
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]