Literature DB >> 34514046

Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.

Sara Lucas-Del-Pozo1,2, David Moreno-Martinez3,4, Maria Camprodon-Gomez3, Daniel Moreno-Martinez5, Jorge Hernández-Vara1,6.   

Abstract

Entities:  

Keywords:  ataxia; galactosemia

Year:  2021        PMID： 34514046      PMCID： PMC8414495          DOI： 10.1002/mdc3.13295

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  8 in total

1.  Molecular analysis in newborns from Texas affected with galactosemia.

Authors:  Y P Yang; N Corley; J Garcia-Heras
Journal:  Hum Mutat       Date:  2002-01       Impact factor: 4.878

Review 2.  Hereditary galactosemia.

Authors:  Didem Demirbas; Ana I Coelho; M Estela Rubio-Gozalbo; Gerard T Berry
Journal:  Metabolism       Date:  2018-01-31       Impact factor: 8.694

3.  N-glycan abnormalities in children with galactosemia.

Authors:  Karen P Coss; Colin P Hawkes; Barbara Adamczyk; Henning Stöckmann; Ellen Crushell; Radka Saldova; Ina Knerr; Maria E Rubio-Gozalbo; Ardeshir A Monavari; Pauline M Rudd; Eileen P Treacy
Journal:  J Proteome Res       Date:  2013-12-20       Impact factor: 4.466

4.  Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.

Authors:  Anouk Kuiper; Stephanie Grünewald; Elaine Murphy; Maraike A Coenen; Hendriekje Eggink; Rodi Zutt; Maria E Rubio-Gozalbo; Annet M Bosch; Monique Williams; Terry G J Derks; Robin H L Lachmann; Martijn C G J Brouwers; Mirian C H Janssen; Marina A Tijssen; Tom J de Koning
Journal:  J Inherit Metab Dis       Date:  2019-02-27       Impact factor: 4.982

5.  A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

Authors:  P de Lonlay; N Seta; S Barrot; B Chabrol; V Drouin; B M Gabriel; H Journel; M Kretz; J Laurent; M Le Merrer; A Leroy; D Pedespan; P Sarda; N Villeneuve; J Schmitz; E van Schaftingen; G Matthijs; J Jaeken; C Korner; A Munnich; J M Saudubray; V Cormier-Daire
Journal:  J Med Genet       Date:  2001-01       Impact factor: 6.318

6.  Galactosemia with chorea--an unusual presentation.

Authors:  Parvaiz A Shah; Faiz A Kuchhai
Journal:  Indian J Pediatr       Date:  2009-04-18       Impact factor: 1.967

7.  Classic galactosemia: dietary dilemmas.

Authors:  Annet M Bosch
Journal:  J Inherit Metab Dis       Date:  2010-07-13       Impact factor: 4.982

Review 8.  Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.

Authors:  Minela Haskovic; Ana I Coelho; Jörgen Bierau; Jo M Vanoevelen; Laura K M Steinbusch; Luc J I Zimmermann; Eduardo Villamor-Martinez; Gerard T Berry; M Estela Rubio-Gozalbo
Journal:  J Inherit Metab Dis       Date:  2020-01-14       Impact factor: 4.982
  8 in total

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