Hymes J - Search Results

1

Profound biotinidase deficiency in two asymptomatic adults.

Wolf B, Norrgard K, Pomponio RJ, Mock DM, McVoy JR, Fleischhauer K, Shapiro S, Blitzer MG, Hymes J. Wolf B, et al. Among authors: hymes j. Am J Med Genet. 1997 Nov 28;73(1):5-9. doi: 10.1002/(sici)1096-8628(19971128)73:1<5::aid-ajmg2>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9375914

2

Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency.

Hart PS, Hymes J, Wolf B. Hart PS, et al. Among authors: hymes j. Pediatr Res. 1992 Mar;31(3):261-5. doi: 10.1203/00006450-199203000-00013. Pediatr Res. 1992. PMID: 1561012

3

Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency.

Hart PS, Hymes J, Wolf B. Hart PS, et al. Among authors: hymes j. Am J Hum Genet. 1992 Jan;50(1):126-36. Am J Hum Genet. 1992. PMID: 1729884 Free PMC article.

4

Biotinylation of biotinidase following incubation with biocytin.

Hymes J, Fleischhauer K, Wolf B. Hymes J, et al. Clin Chim Acta. 1995 Jan 16;233(1-2):39-45. doi: 10.1016/0009-8981(94)05965-u. Clin Chim Acta. 1995. PMID: 7758201

5

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. Hymes J, et al. Biochem Mol Med. 1995 Oct;56(1):76-83. doi: 10.1006/bmme.1995.1059. Biochem Mol Med. 1995. PMID: 8593541

6

Biotinidase and its roles in biotin metabolism.

Hymes J, Wolf B. Hymes J, et al. Clin Chim Acta. 1996 Nov 15;255(1):1-11. doi: 10.1016/0009-8981(96)06396-6. Clin Chim Acta. 1996. PMID: 8930409 Review.

7

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.

Pomponio RJ, Norrgard KJ, Hymes J, Reynolds TR, Buck GA, Baumgartner R, Suormala T, Wolf B. Pomponio RJ, et al. Among authors: hymes j. Hum Genet. 1997 Apr;99(4):506-12. doi: 10.1007/s004390050397. Hum Genet. 1997. PMID: 9099842

8

Biotinidase in serum and tissues.

Hymes J, Fleischhauer K, Wolf B. Hymes J, et al. Methods Enzymol. 1997;279:422-34. doi: 10.1016/s0076-6879(97)79046-3. Methods Enzymol. 1997. PMID: 9211294 Review. No abstract available.

9

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. Norrgard KJ, et al. Among authors: hymes j. Biochem Mol Med. 1997 Jun;61(1):22-7. doi: 10.1006/bmme.1997.2597. Biochem Mol Med. 1997. PMID: 9232193

10

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.

Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, Wolf B. Pomponio RJ, et al. Among authors: hymes j. Pediatr Res. 1997 Dec;42(6):840-8. doi: 10.1203/00006450-199712000-00020. Pediatr Res. 1997. PMID: 9396567

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