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Article title matches
- Category:Galactosemia (43 bytes)
1: List of pages with the keyword Galactosemia - Category:Galactosemia epimerase short-chain dehydrogenase (79 bytes)
1: List of pages with the keyword Galactosemia epimerase short-chain dehydrogenase - Category:Epimerase galactosemia short-chain dehydrogenase (79 bytes)
1: List of pages with the keyword Epimerase galactosemia short-chain dehydrogenase
Page text matches
- 1hxp (5,319 bytes)
24: ...the latter residues have been implicated in human galactosemia. The present structure explains the deleterious e... - 6rhn (4,021 bytes)
23: ...hate uridylyltransferase, whose deficiency causes galactosemia, contains tandem HINT domains with the same fold ... - 1ek5 (3,669 bytes)
11: ...ps://omim.org/entry/230350 230350]; also known as galactosemia type 3. Clinical features include early-onset cat... - 1ek6 (3,884 bytes)
11: ...ps://omim.org/entry/230350 230350]; also known as galactosemia type 3. Clinical features include early-onset cat... - 1hzj (5,677 bytes)
11: ...ps://omim.org/entry/230350 230350]; also known as galactosemia type 3. Clinical features include early-onset cat... - 1i3k (5,823 bytes)
2: ==MOLECULAR BASIS FOR SEVERE EPIMERASE-DEFICIENCY GALACTOSEMIA: X-RAY STRUCTURE OF THE HUMAN V94M-SUBSTITUTED UD...
11: ...ps://omim.org/entry/230350 230350]; also known as galactosemia type 3. Clinical features include early-onset cat...
26: ... of the more severe cases of epimerase deficiency galactosemia arises from an amino acid substitution at positio...
28: Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UD... - 1i3l (5,825 bytes)
2: ==MOLECULAR BASIS FOR SEVERE EPIMERASE-DEFICIENCY GALACTOSEMIA: X-RAY STRUCTURE OF THE HUMAN V94M-SUBSTITUTED UD...
11: ...ps://omim.org/entry/230350 230350]; also known as galactosemia type 3. Clinical features include early-onset cat...
26: ... of the more severe cases of epimerase deficiency galactosemia arises from an amino acid substitution at positio...
28: Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UD... - 1i3m (5,777 bytes)
2: ==MOLECULAR BASIS FOR SEVERE EPIMERASE-DEFICIENCY GALACTOSEMIA: X-RAY STRUCTURE OF THE HUMAN V94M-SUBSTITUTED UD...
11: ...ps://omim.org/entry/230350 230350]; also known as galactosemia type 3. Clinical features include early-onset cat...
26: ... of the more severe cases of epimerase deficiency galactosemia arises from an amino acid substitution at positio...
28: Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UD... - 1i3n (5,777 bytes)
2: ==MOLECULAR BASIS FOR SEVERE EPIMERASE-DEFICIENCY GALACTOSEMIA: X-RAY STRUCTURE OF THE HUMAN V94M-SUBSTITUTED UD...
11: ...ps://omim.org/entry/230350 230350]; also known as galactosemia type 3. Clinical features include early-onset cat...
26: ... of the more severe cases of epimerase deficiency galactosemia arises from an amino acid substitution at positio...
28: Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UD... - 1wuu (5,404 bytes)
11: ...CT2) [MIM:[https://omim.org/entry/230200 230200]. Galactosemia II is an autosomal recessive deficiency character...
26: ...the those mutations known to give rise to Type II galactosemia.
28: ... of human galactokinase: implications for type II galactosemia.,Thoden JB, Timson DJ, Reece RJ, Holden HM J Biol... - 1hxq (4,975 bytes)
24: ...at the predominant cause of the metabolic disease galactosemia is the mutation of the corresponding Gln (Gln 188... - 1s4e (5,104 bytes)
24: ...nsequences of mutations in human GalK which cause galactosemia. - Category:Galactosemia (43 bytes)
1: List of pages with the keyword Galactosemia - Category:Galactosemia epimerase short-chain dehydrogenase (79 bytes)
1: List of pages with the keyword Galactosemia epimerase short-chain dehydrogenase - Category:Epimerase galactosemia short-chain dehydrogenase (79 bytes)
1: List of pages with the keyword Epimerase galactosemia short-chain dehydrogenase - 1r3a (2,356 bytes)
11: ... to the most frequent form of the genetic disease galactosemia. We have analyzed the impact of this mutation bot...
13: ...actose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of mo... - UDP-galactose 4-epimerase (1,094 bytes)
6: Mutations in GalE are the cause of galactosemia which is autosomal recessive disorder<ref>PMID:16... - 5in3 (4,309 bytes)
11: ...niprot.org/uniprot/GALT_HUMAN GALT_HUMAN] Classic galactosemia. The disease is caused by mutations affecting the...
16: Classic galactosemia is a potentially lethal disease caused by the dys...
18: Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate... - 6gqd (2,198 bytes)
11: ...niprot.org/uniprot/GALT_HUMAN GALT_HUMAN] Classic galactosemia. The disease is caused by mutations affecting the... - 6gr2 (2,567 bytes)
11: ...CT2) [MIM:[https://omim.org/entry/230200 230200]. Galactosemia II is an autosomal recessive deficiency character...
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