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  1. Profound biotinidase deficiency in two asymptomatic adults

    American Journal of Medical Genetics

    Volume 73, Issue 1, 28 November 1997, Pages: 5–9, Barry Wolf, Karen Norrgard, Robert J. Pomponio, Donald M. Mock, Julie R. Secor McVoy, Kristin Fleischhauer, Steven Shapiro, Miriam G. Blitzer and Jeanne Hymes

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971128)73:1<5::AID-AJMG2>3.0.CO;2-U

  2. Maternal chronic hepatitis B virus does not affect neonatal biotinidase activity

    Acta Paediatrica

    Volume 97, Issue 3, March 2008, Pages: 362–365, George D Vlachos, Kleopatra H Schulpis, Evangelos Papakonstantinou, Miltiadis Papadakis, Ioannis Elefsiniotis, Ioannis Papassotiriou and Aris Antsaklis

    Article first published online : 31 JAN 2008, DOI: 10.1111/j.1651-2227.2007.00636.x

  3. You have free access to this content
    Analysis of mutations causing biotinidase deficiency

    Human Mutation

    Volume 31, Issue 9, September 2010, Pages: 983–991, Kirit Pindolia, Megan Jordan and Barry Wolf

    Article first published online : 15 JUN 2010, DOI: 10.1002/humu.21303

  4. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses

    Prenatal Diagnosis

    Volume 18, Issue 2, February 1998, Pages: 117–122, R. J. Pomponio, J. Hymes, A. Pandya, B. Landa, P. Melone, R. Javaheri, R. Mardach, S. W. Morton, G. A. Meyers, T. Reynolds, G. Buck, W. E. Nance and B. Wolf

    Article first published online : 4 DEC 1998, DOI: 10.1002/(SICI)1097-0223(199802)18:2<117::AID-PD226>3.0.CO;2-R

  5. Statistical approaches for the detection of heterozygotes for biotinidase deficiency

    American Journal of Medical Genetics

    Volume 39, Issue 4, 15 June 1991, Pages: 385–390, Karen A. Weissbecker, Walter E. Nance, Lindon J. Eaves, Charles Piussan and Barry Wolf

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320390404

  6. Mutations in BTD causing biotinidase deficiency

    Human Mutation

    Volume 18, Issue 5, November 2001, Pages: 375–381, Jeanne Hymes, Christine M. Stanley and Barry Wolf

    Article first published online : 9 OCT 2001, DOI: 10.1002/humu.1208

  7. Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States

    Human Mutation

    Volume 11, Issue 5, 1998, Page: 410, Karen J. Norrgard, Robert J. Pomponio, Katie L. Swango, Jeanne Hymes, Thomas Reynolds, Gregory A. Buck and Barry Wolf

    Article first published online : 22 NOV 1999, DOI: 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8

  8. Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: The usefulness of multiple study designs

    American Journal of Medical Genetics

    Volume 47, Issue 2, 15 August 1993, Pages: 231–240, Karen A. Weissbecker, Barry Wolf, Lindon J. Eaves, Mary L. Marazita and Walter E. Nance

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320470218

  9. You have full text access to this OnlineOpen article
    Biotinylation of histones in human cells 

    European Journal of Biochemistry

    Volume 268, Issue 20, October 2001, Pages: 5424–5429, J. Steven Stanley, Jacob B. Griffin and Janos Zempleni

    Article first published online : 20 DEC 2001, DOI: 10.1046/j.0014-2956.2001.02481.x

  10. You have full text access to this OnlineOpen article
    K4, K9 and K18 in human histone H3 are targets for biotinylation by biotinidase

    FEBS Journal

    Volume 272, Issue 16, August 2005, Pages: 4249–4259, Keyna Kobza, Gabriela Camporeale, Brian Rueckert, Alice Kueh, Jacob B. Griffin, Gautam Sarath and Janos Zempleni

    Article first published online : 3 AUG 2005, DOI: 10.1111/j.1742-4658.2005.04839.x

  11. Serum biotinidase is a sensitive and specific biochemical marker of hepatic dysfunction: A preliminary report

    Hepatology Research

    Volume 37, Issue 1, January 2007, Pages: 13–17, Minnie Faith, Chundamannil Eapen Eapen, Gnanaiah Wilfred, Jeyamani Ramachandran and Molly Jacob

    Article first published online : 1 FEB 2007, DOI: 10.1111/j.1872-034X.2007.00002.x

  12. Biotinidase

    Standard Article

    Encyclopedia Of Molecular Medicine

    Barry Wolf

    Published Online : 15 JAN 2002, DOI: 10.1002/0471203076.emm0086

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    Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates

    Human Mutation

    Volume 25, Issue 4, April 2005, Page: 413, Barry Wolf, Kevin P. Jensen, Bruce Barshop, Miriam Blitzer, Martha Carlson, David R. Goudie, Gulden Huner Gokcay, Mubeccel Demirkol, Tolunay Baykal, F. Demir, Sharon Quary, Ling Yu Shih, Helio F. Pedro, Tsui-hua H. Chen and Alfred E. Slonim

    Article first published online : 17 MAR 2005, DOI: 10.1002/humu.9329

  14. You have full text access to this OnlineOpen article
    Low Serum Biotinidase Activity in Children with Valproic Acid Monotherapy

    Epilepsia

    Volume 42, Issue 10, October 2001, Pages: 1359–1362, K. H. Schulpis, G. A. Karikas, J. Tjamouranis, S. Regoutas and S. Tsakiris

    Article first published online : 20 DEC 2001, DOI: 10.1046/j.1528-1157.2001.47000.x

  15. The Significance of Breast Milk Biotinidase

    Pediatrics International

    Volume 31, Issue 4, August 1989, Pages: 424–427, Jun Oizumi, Masahiko Hirano, Kou Hayakawa, Takaki Daimatsu and Koji Zaima

    Article first published online : 9 OCT 2007, DOI: 10.1111/j.1442-200X.1989.tb01328.x

  16. Biotinidase deficiency: Initial clinical features and rapid diagnosis

    Annals of Neurology

    Volume 18, Issue 5, November 1985, Pages: 614–617, Dr. Barry Wolf, Gregory S. Heard, Karen A. Weissbecker, Julie R. Secor McVoy, Robert E. Grier and Robert T. Leshner

    Article first published online : 7 OCT 2004, DOI: 10.1002/ana.410180517

  17. Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency

    Pediatric Blood & Cancer

    Volume 59, Issue 1, 15 July 2012, Pages: 191–193, Fatih Kardas, Turkan Patiroglu, Ekrem Unal, Samuel C.C. Chiang, Yenan T. Bryceson and Mustafa Kendirci

    Article first published online : 16 AUG 2011, DOI: 10.1002/pbc.23247

  18. You have full text access to this OnlineOpen article
    Outcome in patients with profound biotinidase deficiency: relevance of newborn screening

    Developmental Medicine & Child Neurology

    Volume 46, Issue 7, July 2004, Pages: 481–484, Peter Weber, Sabine Scholl and E Regula Baumgartner

    Article first published online : 13 FEB 2007, DOI: 10.1111/j.1469-8749.2004.tb00509.x

  19. Inherited defects of biotin metabolism

    BioFactors

    Volume 10, Issue 2-3, 1999, Pages: 287–290, E. Regula Baumgartner and Terttu Suormala

    Article first published online : 16 DEC 2008, DOI: 10.1002/biof.5520100229

  20. Biotinidase Activity in Animal Tissues

    Acta Physiologica Scandinavica

    Volume 58, Issue 1, May 1963, Pages: 13–19, Martti Koivusalo and Jaakko Pispa

    Article first published online : 8 DEC 2008, DOI: 10.1111/j.1748-1716.1963.tb02623.x