Literature DB >> 4785150

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

R Gitzelmann, B Steinmann.   

Abstract

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Year:  1973        PMID： 4785150

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


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  14 in total

1.  Congenital porto-left renal venous shunt as a cause of galactosaemia.

Authors:  N Mizoguchi; N Sakura; H Ono; K Naito; M Hamakawa
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

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

Authors:  B B Quimby; A Alano; S Almashanu; A M DeSandro; T M Cowan; J L Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

3.  A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.

Authors:  Ying Liu; Kristi Bentler; Bradford Coffee; Juliet S Chhay; Kyriakie Sarafoglou; Judith L Fridovich-Keil
Journal:  JIMD Rep       Date:  2012-07-01

4.  Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture.

Authors:  B Mitchell; E Haigis; B Steinmann; R Gitzelmann
Journal:  Proc Natl Acad Sci U S A       Date:  1975-12       Impact factor: 11.205

5.  Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.

Authors:  T M Wohlers; J L Fridovich-Keil
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982

6.  Epimerase-deficiency galactosemia is not a binary condition.

Authors:  Kimberly K Openo; Jenny M Schulz; Claudia A Vargas; Corey S Orton; Michael P Epstein; Rhonda E Schnur; Fernando Scaglia; Gerard T Berry; Gary S Gottesman; Can Ficicioglu; Alfred E Slonim; Richard J Schroer; Chunli Yu; Vanessa E Rangel; Jennifer Keenan; Kerri Lamance; Judith L Fridovich-Keil
Journal:  Am J Hum Genet       Date:  2005-11-14       Impact factor: 11.025

7.  Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.

Authors:  A Alano; S Almashanu; J M Chinsky; P Costeas; M G Blitzer; E A Wulfsberg; T M Cowan
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

8.  Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging.

Authors:  Y Nishimura; G Tajima; A Dwi Bahagia; A Sakamoto; H Ono; N Sakura; K Naito; M Hamakawa; C Yoshii; M Kubota; K Kobayashi; T Saheki
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

Review 9.  Galactose-1-phosphate in the pathophysiology of galactosemia.

Authors:  R Gitzelmann
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

Review 10.  Effects of galactosemia in utero.

Authors:  J B Holton
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183
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