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Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation.
PMID: 4785150 [PubMed - indexed for MEDLINE]
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Cited by 4 PubMed Central articles
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Epimerase-deficiency galactosemia is not a binary condition.
Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE, Scaglia F, Berry GT, Gottesman GS, Ficicioglu C, et al.
Am J Hum Genet. 2006 Jan; 78(1):89-102. Epub 2005 Nov 14.
[Am J Hum Genet. 2006]
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Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL.
Am J Hum Genet. 1997 Sep; 61(3):590-8.
[Am J Hum Genet. 1997]
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Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.
Holton JB, Gillett MG, MacFaul R, Young R.
Arch Dis Child. 1981 Nov; 56(11):885-7.
[Arch Dis Child. 1981]
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