Literature DB >> 10086948

Generalised uridine diphosphate galactose-4-epimerase deficiency.

J H Walter1, R E Roberts, G T Besley, J E Wraith, M A Cleary, J B Holton, R MacFaul.   

Abstract

The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. Despite treatment all have shown poor growth and moderate learning difficulties. Three have sensorineural deafness and four have pronounced dysmorphic features. The two older female patients have normal pubertal development.

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Year:  1999        PMID： 10086948      PMCID： PMC1717903          DOI： 10.1136/adc.80.4.374

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  10 in total

1.  Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.

Authors:  L Garibaldi; A Superti-Furga; C Borrone
Journal:  J Pediatr       Date:  1986-12       Impact factor: 4.406

2.  Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia.

Authors:  D M Kingsley; M Krieger; J B Holton
Journal:  N Engl J Med       Date:  1986-05-08       Impact factor: 91.245

3.  A patient with severe type of epimerase deficiency galactosaemia.

Authors:  I B Sardharwalla; J E Wraith; C Bridge; B Fowler; S A Roberts
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

4.  Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.

Authors:  L R Garibaldi; S Canini; A Superti-Furga; G Lamedica; M Filocamo; N Marchese; C Borrone
Journal:  J Pediatr       Date:  1983-12       Impact factor: 4.406

5.  Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.

Authors:  P Maceratesi; N Daude; B Dallapiccola; G Novelli; R Allen; Y Okano; J Reichardt
Journal:  Mol Genet Metab       Date:  1998-01       Impact factor: 4.797

6.  Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.

Authors:  J Jaeken; M Pirard; M Adamowicz; E Pronicka; E van Schaftingen
Journal:  Pediatr Res       Date:  1996-11       Impact factor: 3.756

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

Authors:  N Daude; T K Gallaher; M Zeschnigk; A Starzinski-Powitz; K G Petry; I S Haworth; J K Reichardt
Journal:  Biochem Mol Med       Date:  1995-10

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

Authors:  J B Holton; M G Gillett; R MacFaul; R Young
Journal:  Arch Dis Child       Date:  1981-11       Impact factor: 3.791

9.  Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation.

Authors:  M J Henderson; J B Holton; R MacFaul
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

10.  Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia.

Authors:  G T Berry; I Nissim; Z Lin; A T Mazur; J B Gibson; S Segal
Journal:  Lancet       Date:  1995-10-21       Impact factor: 79.321
  10 in total
  22 in total

1.  Generalized epimerase deficiency galactosemia.

Authors:  Mihir Sarkar; Some Suvra Bose; Gobinda Mondal; Sukanta Chatterjee
Journal:  Indian J Pediatr       Date:  2010-08-20       Impact factor: 1.967

2.  Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.

Authors:  Thomas J McCorvie; Ying Liu; Andrew Frazer; Tyler J Gleason; Judith L Fridovich-Keil; David J Timson
Journal:  Biochim Biophys Acta       Date:  2012-05-18

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.  Galactose Epimerase Deficiency: Expanding the Phenotype.

Authors:  Filipa Dias Costa; Sacha Ferdinandusse; Carla Pinto; Andrea Dias; Liesbeth Keldermans; Dulce Quelhas; Gert Matthijs; Petra A Mooijer; Luísa Diogo; Jaak Jaeken; Paula Garcia
Journal:  JIMD Rep       Date:  2017-03-01

Review 5.  Newborn screening and renal disease: where we have been; where we are now; where we are going.

Authors:  J Lawrence Merritt; David Askenazi; Si Houn Hahn
Journal:  Pediatr Nephrol       Date:  2011-09-27       Impact factor: 3.714

6.  Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.

Authors:  Brook M Pyhtila; Kelly A Shaw; Samantha E Neumann; Judith L Fridovich-Keil
Journal:  JIMD Rep       Date:  2014-04-10

7.  Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.

Authors:  S Udhaya Kumar; Srivarshini Sankar; D Thirumal Kumar; Salma Younes; Nadin Younes; R Siva; C George Priya Doss; Hatem Zayed
Journal:  Cell Biochem Biophys       Date:  2021-02-08       Impact factor: 2.194

8.  Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE).

Authors:  Jane Odhiambo Mumma; Juliet S Chhay; Kerry L Ross; Jana S Eaton; Karen A Newell-Litwa; Judith L Fridovich-Keil
Journal:  Mol Genet Metab       Date:  2007-11-05       Impact factor: 4.797

9.  The Xbp1s/GalE axis links ER stress to postprandial hepatic metabolism.

Authors:  Yingfeng Deng; Zhao V Wang; Caroline Tao; Ningguo Gao; William L Holland; Anwarul Ferdous; Joyce J Repa; Guosheng Liang; Jin Ye; Mark A Lehrman; Joseph A Hill; Jay D Horton; Philipp E Scherer
Journal:  J Clin Invest       Date:  2012-12-21       Impact factor: 14.808

10.  Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.

Authors:  Patricia P Jumbo-Lucioni; William M Parkinson; Danielle L Kopke; Kendal Broadie
Journal:  Hum Mol Genet       Date:  2016-07-27       Impact factor: 6.150
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