Wolf, B. Disorders of Biotin
Metabolism. In The Metabolic and Molecular Basis of Inherited Disease
8th Edition (eds. CR Scriver, AV Beaudet, WS Sly and D Valle) McGraw-Hill
Book Company, New York. 1998.
Wolf, B. Disorders of biotin metabolism: Treatable neurological syndromes.
In The Molecular and Genetic Basis of Neurological Disease 2nd Edition
(eds. RN Rosenberg, BS Prusiner, SD Mauro, RL Barchi and LM Kunkel)
Butterworth, Stoneham, MA, CD ROM including update,1997.
Wolf, B. Biotinidase Deficiency. (eds. Gilman, S, Goldstein, GW, Waxman,
SG), Neurobase, v.4.1, La Jolla, CA, 1998.
Dove Pettit, D, Heard, GS and Wolf, B. Biotinidase deficiency: In Laboratory
Handbook of Newborn Screening, (ed. B Therrell) American Public health
Association, p.133-138, 1993.
Cole, H, Reynolds, TR, Lockyer, JM, Buck, GA, Danson, T, Spence, JE,
Hymes, J and Wolf, B. Human serum biotinidase: cDNA cloning, sequencing,
and characterization. J Biol Chem. 269:6566-6570, 1994.
Heard, GS, Wolf, B, Jefferson, LG, Weissbecker, KA, Nance, WE, Napolitano,
A, Mitchell, PL, Lambert, FW and Linyear, AS. Neonatal screening for
biotinidase deficiency: Results of a one year pilot study. J Pediatr.
108:40-46, 1986.
Hymes, J, Stanley, CM and Wolf, B. Mutations in BTD Causing Biotinidase
Deficiency. Hum.Mutation. 18:375-381, 2001.
Hymes, J and Wolf, B. Biotinidase and its roles in biotin metabolism.
Clin Chim Acta. 255:1-11, 1996.
Knight, HC, Reynolds, TR, Meyers, GA, Pomponio, RJ, Buck, GA, Wolf,
B. Structure of the human biotinidase gene. Mammalian Genome 9:327-330,
1998.
Norrgard, KJ, Pomponio, RJ, Hymes, J and Wolf, B. Mutations causing
profound biotinidase deficiency in children ascertained by newborn screening
in the United States occur at different frequencies than in symptomatic
children. Pediatr Res. 46:20-27, 1999.
Pomponio, RJ, Hymes, J, Reynolds, TR, Meyers, GA, Fleischhauer, K, Buck,
GA and Wolf, B. Mutations in the Human Biotinidase Gene that Cause Profound
Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical
and Clinical Analysis. Pediatr Res. 42:840-848,1997.
Pomponio, RJ, Reynold, TR, Cole, H, Buck, GA, Wolf, B. Mutational "hotspot"
in the human biotinidase gene as a cause of biotinidase deficiency.
Nature Genet.11:96-98, 1995.
Salbert, BA, Astruc, J, and Wolf, B. Ophthalmologic abnormalities associated
with biotinidase deficiency. Ophthalmalogica 206:177-181, 1993.
Salbert, BA, Pellock, JM, and Wolf, B. Characterization of seizures
associated with biotinidase deficiency. Neurology 45:1351-1354, 1993.
Secor McVoy, JR, Levy, HL, Lawler, M, Schmidt, MA, Ebers, DD, Hart,
PS, Dove Pettit, D,Blitzer, MG and Wolf, B. Partial biotinidase deficiency:
Clinical and biochemical features. JPediatr. 116:78-83, 1990.
Swango, KL, Demirkol, M, Huner, G, Pronicka, E, Sykut-Cegielska, J,
Schulze, A and Wolf,B. Partial biotinidase deficiency is usually due
to the D444H mutation in the biotinidase gene. Human Genet. 102:571-575,
1998.
Wolf, B., Grier, RE, Parker, WD, Goodman, SI and Allen, RJ: Deficient
biotinidase activity in late-onset multiple carboxylase deficiency.
N Engl J Med. 308:161, 1983.
Wolf, B, Grier, RE, Allen, RJ, Goodman, SI and Kien, CL: Biotinidase
deficiency: An enzymatic defect in late-onset multiple carboxylase deficiency.
Clin Chim Acta 131:273-281,1983.
Wolf, B, Grier, RE, Allen, RJ, Goodman, SI, Kien, CL, Parker, WD, Howell,
DM and Hurst, DL. Phenotypic variation in biotinidase deficiency. J
Pediatr. 103:233-237, 1983.
Wolf, B, Heard, GS, Jefferson, LG, Proud, VK, Nance, WE and Weissbecker,
KA. Clinical findings in four children with biotinidase deficiency detected
through a statewide neonatal screening program. N Engl J Med. 313:16-19,
1985.
Wolf, B and Heard, GS. Worldwide experience in newborn screening for
biotinidase deficiency. Pediatr. 85:512-517, 1990.