Abstract |
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Authors | R Seppala, V P Lehto, W A Gahl |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 64
Issue 6
Pg. 1563-9
(Jun 1999)
ISSN: 0002-9297 [Print] United States |
PMID | 10330343
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Carrier Proteins
- DNA, Complementary
- Carbohydrate Epimerases
- N-acyl-D-glucosamine 2-epimerase
- RENBP protein, human
- N-Acetylneuraminic Acid
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Topics |
- Allosteric Site
- Amino Acid Sequence
- Base Sequence
- Carbohydrate Epimerases
(genetics, metabolism)
- Carrier Proteins
- Child, Preschool
- DNA, Complementary
- Female
- Humans
- Male
- Metabolism, Inborn Errors
(enzymology, genetics, urine)
- Molecular Sequence Data
- Mutation
- N-Acetylneuraminic Acid
(urine)
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