Literature DB >> 25288126

Disease severity and clinical outcome in phosphosglucomutase deficiency.

Eva Morava1, Sunnie Wong, Dirk Lefeber.   

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Year:  2015        PMID： 25288126      PMCID： PMC4344407          DOI： 10.1007/s10545-014-9769-5

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


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  9 in total

1.  Skeletal muscle glycogenosis: an investigation of two dissimilar cases.

Authors:  W H THOMSON; J C MACLAURIN; J W PRINEAS
Journal:  J Neurol Neurosurg Psychiatry       Date:  1963-02       Impact factor: 10.154

2.  Muscle glycogenosis due to phosphoglucomutase 1 deficiency.

Authors:  Tanya Stojkovic; John Vissing; François Petit; Monique Piraud; Mette C Orngreen; Grete Andersen; Kristl G Claeys; Claire Wary; Jean-Yves Hogrel; Pascal Laforêt
Journal:  N Engl J Med       Date:  2009-07-23       Impact factor: 91.245

3.  Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Authors:  Sharita Timal; Alexander Hoischen; Ludwig Lehle; Maciej Adamowicz; Karin Huijben; Jolanta Sykut-Cegielska; Justyna Paprocka; Ewa Jamroz; Francjan J van Spronsen; Christian Körner; Christian Gilissen; Richard J Rodenburg; Ilse Eidhof; Lambert Van den Heuvel; Christian Thiel; Ron A Wevers; Eva Morava; Joris Veltman; Dirk J Lefeber
Journal:  Hum Mol Genet       Date:  2012-04-05       Impact factor: 6.150

Review 4.  Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.

Authors:  Eva Morava
Journal:  Mol Genet Metab       Date:  2014-06-21       Impact factor: 4.797

5.  Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.

Authors:  Pushpa Maliekal; Tatiana Sokolova; Didier Vertommen; Maria Veiga-da-Cunha; Emile Van Schaftingen
Journal:  J Biol Chem       Date:  2007-09-05       Impact factor: 5.157

Review 6.  Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.

Authors:  Lesa J Beamer
Journal:  J Inherit Metab Dis       Date:  2014-08-29       Impact factor: 4.982

7.  Multiple phenotypes in phosphoglucomutase 1 deficiency.

Authors:  Laura C Tegtmeyer; Stephan Rust; Monique van Scherpenzeel; Bobby G Ng; Marie-Estelle Losfeld; Sharita Timal; Kimiyo Raymond; Ping He; Mie Ichikawa; Joris Veltman; Karin Huijben; Yoon S Shin; Vandana Sharma; Maciej Adamowicz; Martin Lammens; Janine Reunert; Anika Witten; Esther Schrapers; Gert Matthijs; Jaak Jaeken; Daisy Rymen; Tanya Stojkovic; Pascal Laforêt; François Petit; Olivier Aumaître; Elzbieta Czarnowska; Monique Piraud; Teodor Podskarbi; Charles A Stanley; Reuben Matalon; Patricie Burda; Soraya Seyyedi; Volker Debus; Piotr Socha; Jolanta Sykut-Cegielska; Francjan van Spronsen; Linda de Meirleir; Pietro Vajro; Terry DeClue; Can Ficicioglu; Yoshinao Wada; Ron A Wevers; Dieter Vanderschaeghe; Nico Callewaert; Ralph Fingerhut; Emile van Schaftingen; Hudson H Freeze; Eva Morava; Dirk J Lefeber; Thorsten Marquardt
Journal:  N Engl J Med       Date:  2014-02-06       Impact factor: 91.245

Review 8.  Congenital disorders of glycosylation: new defects and still counting.

Authors:  Kyle Scott; Therese Gadomski; Tamas Kozicz; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2014-05-15       Impact factor: 4.982

9.  The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.

Authors:  R E March; W Putt; M Hollyoake; J H Ives; J U Lovegrove; D A Hopkinson; Y H Edwards; D B Whitehouse
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-15       Impact factor: 11.205
  9 in total
  6 in total

1.  Quo vadis: the re-definition of "inborn metabolic diseases".

Authors:  Eva Morava; Shamima Rahman; Verena Peters; Matthias R Baumgartner; Marc Patterson; Johannes Zschocke
Journal:  J Inherit Metab Dis       Date:  2015-09-29       Impact factor: 4.982

Review 2.  Glycogen metabolism and glycogen storage disorders.

Authors:  Shibani Kanungo; Kimberly Wells; Taylor Tribett; Areeg El-Gharbawy
Journal:  Ann Transl Med       Date:  2018-12

3.  Asp263 missense variants perturb the active site of human phosphoglucomutase 1.

Authors:  Kyle M Stiers; Abigail C Graham; Bailee N Kain; Lesa J Beamer
Journal:  FEBS J       Date:  2017-02-10       Impact factor: 5.542

4.  Effects of the T337M and G391V disease-related variants on human phosphoglucomutase 1: structural disruptions large and small.

Authors:  Kyle M Stiers; Luckio F Owuocha; Lesa J Beamer
Journal:  Acta Crystallogr F Struct Biol Commun       Date:  2022-04-25       Impact factor: 1.072

5.  Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

Authors:  Hossein Moravej; Ruqaiah Altassan; Jaak Jaeken; Gregory M Enns; Carolyn Ellaway; Shanti Balasubramaniam; Pascale De Lonlay; David Coman; Saadet Mercimek-Andrews; Peter Witters; Eva Morava
Journal:  JIMD Rep       Date:  2019-11-25

Review 6.  International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

Authors:  Ruqaiah Altassan; Silvia Radenkovic; Andrew C Edmondson; Rita Barone; Sandra Brasil; Anna Cechova; David Coman; Sarah Donoghue; Kristina Falkenstein; Vanessa Ferreira; Carlos Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Stephanie Grunewald; Tomas Honzik; Jaak Jaeken; Donna Krasnewich; Christina Lam; Joy Lee; Dirk Lefeber; Dorinda Marques-da-Silva; Carlota Pascoal; Dulce Quelhas; Kimiyo M Raymond; Daisy Rymen; Malgorzata Seroczynska; Mercedes Serrano; Jolanta Sykut-Cegielska; Christian Thiel; Frederic Tort; Mari-Anne Vals; Paula Videira; Nicol Voermans; Peter Witters; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2020-09-15       Impact factor: 4.982
  6 in total

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