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J HYMES

Explore the profile of J HYMES including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 27
Citations 309
Followers 0
Related Specialties
Biochemistry
Genetics
Biology
Top 10 Co-Authors
B Wolf
R J Pomponio
K J Norrgard
G A Buck
K Fleischhauer
T R Reynolds
P S Hart
K L Swango
G A Meyers
T Reynolds
Published In
Clin Chim Acta
Pediatr Res
Mol Genet Metab
Methods Enzymol
Biochem Mol Med
Affiliations
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Recent Articles
1.
Mutations in BTD causing biotinidase deficiency
HYMES J, Stanley C, Wolf B
Hum Mutat . 2001 Oct; 18(5):375-81. PMID: 11668630
Biotinidase (BTD) is the only enzyme that can cleave biocytin, a product of the proteolytic digestion of holocarboxylases. Profound BTD deficiency (less than 10% mean normal activity in serum) is...
2.
The use of biotinylated compounds or reagents is much more complicated than originally thought
HYMES J, Wolf B
J Neurosci Methods . 2000 Jul; 98(2):171-3. PMID: 10880831
No abstract available.
3.
Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase
Swango K, HYMES J, Brown P, Wolf B
Mol Genet Metab . 2000 Mar; 69(2):111-5. PMID: 10720437
A search of protein databases revealed amino acid homologies among human biotinidase, bacterial aliphatic amidases, and bacterial and plant nitrilases. Amino acids YRK(210-212) of biotinidase are conserved among the enzyme...
4.
Examination of the signal peptide region of human biotinidase using a baculovirus expression system
Norrgard K, HYMES J, Wolf B
Mol Genet Metab . 2000 Feb; 69(1):56-63. PMID: 10655158
Biotinidase deficiency is an autosomal recessive disorder of biotin recycling. Biotinidase cleaves the biotin from biocytin or short biotinyl-peptides to replenish the free biotin pool, or it can transfer the...
5.
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children
Norrgard K, Pomponio R, HYMES J, Wolf B
Pediatr Res . 1999 Jul; 46(1):20-7. PMID: 10400129
Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism that can lead to varying degrees of neurologic and cutaneous symptoms when untreated. Because this disorder meets the criteria for...
6.
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online
Norrgard K, Pomponio R, Swango K, HYMES J, Reynolds T, Buck G, et al.
Hum Mutat . 1999 Apr; 11(5):410. PMID: 10206677
Biotinidase deficiency is inherited as an antosomal recessive trait that, unless treated with pharmacologic doses of biotin, can result in neurologic and cutaneous symptoms. We have identified two new mutations...
7.
Human biotinidase isn't just for recycling biotin
HYMES J, Wolf B
J Nutr . 1999 Mar; 129(2S Suppl):485S-489S. PMID: 10064314
For years, the major role of biotin has been as the coenzyme for four carboxylases in humans. Although there has been evidence that biotin might have other functions, none has...
8.
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency
Pomponio R, Yamaguchi A, Arashima S, HYMES J, Wolf B
Mol Genet Metab . 1998 Aug; 64(2):152-4. PMID: 9705240
The only known Japanese child with biotinidase deficiency was identified by newborn screening in Japan. He has 10.8% of mean normal serum biotinyl-hydrolase activity and trace biotinyl-transferase activity. The mutation...
9.
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses
Pomponio R, HYMES J, Pandya A, Landa B, Melone P, Javaheri R, et al.
Prenat Diagn . 1998 Mar; 18(2):117-22. PMID: 9516011
Biotinidase deficiency is characterized by neurological and cutaneous abnormalities that can be prevented or ameliorated by oral biotin therapy. A child with biotinidase deficiency went undiagnosed for a long period...
10.
Delayed-onset profound biotinidase deficiency
Wolf B, Pomponio R, Norrgard K, Lott I, Baumgartner E, Suormala T, et al.
J Pediatr . 1998 Mar; 132(2):362-5. PMID: 9506660
Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We describe four children who had symptoms later in childhood or during adolescence; they had motor...