Literature DB >> 21116719

Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia.

Gerard T Berry, Louis J Elsas.   

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Year:  2010        PMID： 21116719     DOI： 10.1007/s10545-010-9232-1

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


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  74 in total

1.  Clouds still gathering over galactosaemia.

Authors:  J B Holton; J V Leonard
Journal:  Lancet       Date:  1994-11-05       Impact factor: 79.321

2.  GALT deficiency causes UDP-hexose deficit in human galactosemic cells.

Authors:  K Lai; S D Langley; F W Khwaja; E W Schmitt; L J Elsas
Journal:  Glycobiology       Date:  2003-01-03       Impact factor: 4.313

3.  The molecular basis of transferase galactosaemia in South African negroids.

Authors:  N Manga; T Jenkins; H Jackson; D A Whittaker; A B Lane
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

4.  Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors.

Authors:  M Tang; K Wierenga; L J Elsas; K Lai
Journal:  Chem Biol Interact       Date:  2010-08-07       Impact factor: 5.192

5.  Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

Authors:  L J Elsas; K Lai; C J Saunders; S D Langley
Journal:  Mol Genet Metab       Date:  2001-04       Impact factor: 4.797

6.  Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.

Authors:  C Ning; R Reynolds; J Chen; C Yager; G T Berry; N Leslie; S Segal
Journal:  Mol Genet Metab       Date:  2001-04       Impact factor: 4.797

7.  Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene.

Authors:  G T Berry; N Leslie; R Reynolds; C T Yager; S Segal
Journal:  Mol Genet Metab       Date:  2001-04       Impact factor: 4.797

Review 8.  Galactosemia and amenorrhea in the adolescent.

Authors:  Gerard T Berry
Journal:  Ann N Y Acad Sci       Date:  2008       Impact factor: 5.691

9.  Developmental aspects of galactosemia from infancy to childhood.

Authors:  K Fishler; R Koch; G N Donnell; E Wenz
Journal:  Clin Pediatr (Phila)       Date:  1980-01       Impact factor: 1.168

10.  Remarkable differences: the course of life of young adults with galactosaemia and PKU.

Authors:  A M Bosch; H Maurice-Stam; F A Wijburg; M A Grootenhuis
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982
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  7 in total

Review 1.  Innovative therapy for Classic Galactosemia - tale of two HTS.

Authors:  M Tang; S I Odejinmi; H Vankayalapati; K J Wierenga; K Lai
Journal:  Mol Genet Metab       Date:  2011-10-01       Impact factor: 4.797

2.  Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases.

Authors:  Fiona M Lewis; David J Coman; Maryann Syrmis; Sarah Kilcoyne; Bruce E Murdoch
Journal:  JIMD Rep       Date:  2012-12-29

3.  Motor and speech disorders in classic galactosemia.

Authors:  Nancy L Potter; Yves Nievergelt; Lawrence D Shriberg
Journal:  JIMD Rep       Date:  2013-04-02

4.  Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.

Authors:  Tatiana Yuzyuk; Krista Viau; Ashley Andrews; Marzia Pasquali; Nicola Longo
Journal:  J Inherit Metab Dis       Date:  2018-01-19       Impact factor: 4.982

Review 5.  Pregnancy in women with inherited metabolic disease.

Authors:  Elaine Murphy
Journal:  Obstet Med       Date:  2015-03-29

6.  The natural history of classic galactosemia: lessons from the GalNet registry.

Authors:  M E Rubio-Gozalbo; M Haskovic; A M Bosch; B Burnyte; A I Coelho; D Cassiman; M L Couce; C Dawson; D Demirbas; T Derks; F Eyskens; M T Forga; S Grunewald; J Häberle; M Hochuli; A Hubert; H H Huidekoper; P Janeiro; J Kotzka; I Knerr; P Labrune; Y E Landau; J G Langendonk; D Möslinger; D Müller-Wieland; E Murphy; K Õunap; D Ramadza; I A Rivera; S Scholl-Buergi; K M Stepien; A Thijs; C Tran; R Vara; G Visser; R Vos; M de Vries; S E Waisbren; M M Welsink-Karssies; S B Wortmann; M Gautschi; E P Treacy; G T Berry
Journal:  Orphanet J Rare Dis       Date:  2019-04-27       Impact factor: 4.123

Review 7.  Fertility preservation in female classic galactosemia patients.

Authors:  Britt van Erven; Cynthia S Gubbels; Ron J van Golde; Gerard A Dunselman; Josien G Derhaag; Guido de Wert; Joep P Geraedts; Annet M Bosch; Eileen P Treacy; Corrine K Welt; Gerard T Berry; M Estela Rubio-Gozalbo
Journal:  Orphanet J Rare Dis       Date:  2013-07-16       Impact factor: 4.123
  7 in total

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