Affiliation: Connecticut Children's Medical Center
- Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localizationBarry Wolf
Department of Pediatrics, Connecticut Children s Medical Center, Hartford, CT, USA
Mol Genet Metab 86:44-50. 2005..Additional immunohistochemical studies of various human tissues at different stages of development are necessary to resolve the ambiguity of subcellular localization of biotinidase...
- Seventeen novel mutations that cause profound biotinidase deficiencyB Wolf
Division of Research, Department of Pediatrics, Connecticut Children s Medical Center, University of Connecticut School of Medicine, 282 Washington Street, Hartford, CT 06106, USA
Mol Genet Metab 77:108-11. 2002..These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined...
- Markedly elevated serum biotinidase activity may indicate glycogen storage disease type IaB Wolf
Department of Pediatrics, Connecticut Children s Medical Center, 282 Washington Street, Hartford, CT 06106, USA
J Inherit Metab Dis 26:805-9. 2003..GSD type Ia should be considered in children with markedly elevated serum biotinidase activity...
- Biotinidase: its role in biotinidase deficiency and biotin metabolismBarry Wolf
Division of Research, Department of Pediatrics, Connecticut Children s Medical Center and University of Connecticut School of Medicine, Hartford, CT 06106, USA
J Nutr Biochem 16:441-5. 2005..Biotinidase may have an important regulatory role(s) in chromatin/DNA function...
- Biotinidase deficiency: novel mutations and their biochemical and clinical correlatesBarry Wolf
Department of Pediatrics, Connecticut Children s Medical Center and the University of Connecticut School of Medicine, Farmington, Connecticut, USA
Hum Mutat 25:413. 2005..These mutations add to the growing list of mutations that are helping to delineate structure/function relationships of the enzyme...
- Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of miceCraig L Brumwell
Department of Neuroscience, University of Connecticut Health Center, Farmington, 06030 3401, USA
Hear Res 209:104-21. 2005..Besides the pattern of localization of biotinidase, this study provides the first systematic account of each developmental stage in a mammalian auditory system...
- Hearing loss is a common feature of symptomatic children with profound biotinidase deficiencyBarry Wolf
Department of Research, Connecticut Children's Medical Center, Hartford 06106, USA
J Pediatr 140:242-6. 2002..The biochemical, genotype, and clinical variations do not correlate with the development of hearing loss. Thus, it is very important to diagnose the disorder early, especially by newborn screening, to prevent the hearing loss...
- Hearing loss in biotinidase deficiency: genotype-phenotype correlationHatice Serap Kalkanoğlu Sivri
Hacettepe University, Department of Pediatrics, Nutrition and Metabolism Unit, Ankara, Turkey
J Pediatr 150:439-42. 2007..Hearing loss appears to be preventable in children with null mutations if treatment is initiated soon after birth...
- Three dimensional structure of human biotinidase: computer modeling and functional correlationsKirit Pindolia
Department of Medical Genetics, Henry Ford Hospital, and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48202, USA
Mol Genet Metab 92:13-22. 2007....
- Biotin dependency due to a defect in biotin transportRebecca Mardach
Regional Metabolic Service, Kaiser Permanente, Los Angeles, California, USA
J Clin Invest 109:1617-23. 2002..These results provide evidence for a novel genetic defect in biotin transport. This child is the first known with this defect, which should now be included in the identified causes of biotin dependency...
- Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotypeBarry Wolf
Eur J Pediatr 161:167-8; author reply 169. 2002
- Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiencyAndrew J Heller
Department of Otolaryngology, Medical College of Virginia of Virginia Commonwealth University, Richmond 23298, USA
Hear Res 173:62-8. 2002..These findings suggest that biotinidase and possibly biotin plays an important role in hearing...
- Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidaseChristine M Stanley
Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond, VA 23298, USA
Mol Genet Metab 81:300-12. 2004..The function and validation of the mitochondrial species remains to be determined. The 5' splice variants and organelle fractionation studies indicate that biotinidase is directed to the secretory pathway and perhaps mitochondria...