Literature DB >> 3141714

A patient with severe type of epimerase deficiency galactosaemia.

I B Sardharwalla1, J E Wraith, C Bridge, B Fowler, S A Roberts.   

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Year:  1988        PMID： 3141714     DOI： 10.1007/bf01804249

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

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

Authors:  R Gitzelmann
Journal:  Helv Paediatr Acta       Date:  1972-06

2.  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
  2 in total
  16 in total

1.  UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation.

Authors:  Y S Shin; G C Korenke; P Huppke; I Knerr; T Podskarbi
Journal:  J Inherit Metab Dis       Date:  2000-06       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.  Results of newborn screening for galactose metabolic disorders.

Authors:  B Inoue; M Hata; Y Ichiba; H Wada; H Misumi; T Mori
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  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

5.  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

6.  UDP-galactose-4-epimerase in a boy with a trisomy 21.

Authors:  K H Schulpis; H Michelakakis; E Charokopos; E Papakonstantinou; J Messaritakis; Y Shin
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

7.  Generalised uridine diphosphate galactose-4-epimerase deficiency.

Authors:  J H Walter; R E Roberts; G T Besley; J E Wraith; M A Cleary; J B Holton; R MacFaul
Journal:  Arch Dis Child       Date:  1999-04       Impact factor: 3.791

8.  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

9.  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

Review 10.  Galactose toxicity in animals.

Authors:  Kent Lai; Louis J Elsas; Klaas J Wierenga
Journal:  IUBMB Life       Date:  2009-11       Impact factor: 3.885
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