(Q28279312)

2

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J M Chinsky

3

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P Costeas

4

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M G Blitzer

5

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E A Wulfsberg

6

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T M Cowan

Journal of Inherited Metabolic Disease

7

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language of work or name

English

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publication date

June 1998

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published in

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volume

21

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issue

4

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page(s)

341-50

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cites work

Crystal structures of the oxidized and reduced forms of UDP-galactose 4-epimerase isolated from Escherichia coli

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12 December 2020

Newborn screening for galactosemia and other galactose metabolic defects

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12 December 2020

Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families

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12 December 2020

Assignment of a gene for uridine diphosphate galactose-4-epimerase to human chromosome 1 by somatic cell hybridization, with evidence for a regional assignment to 1pter→1p21

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12 December 2020

An improved procedure for the assay of hemolysate galactose-1-phosphate uridyl transferase activity by the use of 14C-labeled galactose-1-phosphate

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12 December 2020

Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase

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12 December 2020

Enzymatic estimation of erythrocytic galactose-1-phosphate

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12 December 2020

A patient with severe type of epimerase deficiency galactosaemia

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12 December 2020

Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Preliminary communication

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12 December 2020

Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation

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12 December 2020

Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase

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12 December 2020

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

1 reference

12 December 2020

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency

1 reference

12 December 2020

Regional mapping of the gene for human UDPGal 4-epimerase on chromosome 1 in mouse-human hybrids

1 reference

12 December 2020

Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant

1 reference

12 December 2020

Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program

1 reference

12 December 2020