Literature DB >> 34584669

Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation.

Christin Johnsen1, Andrew C Edmondson2.   

Abstract

Entities:  

Year:  2021        PMID： 34584669      PMCID： PMC8450475          DOI： 10.1002/cld.1105

Source DB:  PubMed          Journal:  Clin Liver Dis (Hoboken)        ISSN： 2046-2484


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  12 in total

1.  International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Authors:  Ruqaiah Altassan; Romain Péanne; Jaak Jaeken; Rita Barone; Muad Bidet; Delphine Borgel; Sandra Brasil; David Cassiman; Anna Cechova; David Coman; Javier Corral; Joana Correia; María Eugenia de la Morena-Barrio; Pascale de Lonlay; Vanessa Dos Reis; Carlos R Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Simone Funke; Thatjana Gardeitchik; Matthijs Gert; Muriel Girad; Marisa Giros; Stephanie Grünewald; Trinidad Hernández-Caselles; Tomas Honzik; Marlen Hutter; Donna Krasnewich; Christina Lam; Joy Lee; Dirk Lefeber; Dorinda Marques-de-Silva; Antonio F Martinez; Hossein Moravej; Katrin Õunap; Carlota Pascoal; Tiffany Pascreau; Marc Patterson; Dulce Quelhas; Kimiyo Raymond; Peymaneh Sarkhail; Manuel Schiff; Małgorzata Seroczyńska; Mercedes Serrano; Nathalie Seta; Jolanta Sykut-Cegielska; Christian Thiel; Federic Tort; Mari-Anne Vals; Paula Videira; Peter Witters; Renate Zeevaert; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2019-01       Impact factor: 4.982

Review 2.  Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Authors:  D Marques-da-Silva; V Dos Reis Ferreira; M Monticelli; P Janeiro; P A Videira; P Witters; J Jaeken; D Cassiman
Journal:  J Inherit Metab Dis       Date:  2017-01-20       Impact factor: 4.982

3.  Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

Authors:  Sunnie Yan-Wai Wong; Lesa J Beamer; Therese Gadomski; Tomas Honzik; Miski Mohamed; Saskia B Wortmann; Katja S Brocke Holmefjord; Marit Mork; Francis Bowling; Jolanta Sykut-Cegielska; Dieter Koch; Amanda Ackermann; Charles A Stanley; Daisy Rymen; Avraham Zeharia; Moeen Al-Sayed; Thomas Marquardt; Jaak Jaeken; Dirk Lefeber; Donald F Conrad; Tamas Kozicz; Eva Morava
Journal:  J Pediatr       Date:  2016-05-17       Impact factor: 4.406

4.  The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.

Authors:  P de Lonlay; N Seta
Journal:  Biochim Biophys Acta       Date:  2008-12-06

5.  TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

Authors:  Jos C Jansen; Sharita Timal; Monique van Scherpenzeel; Helen Michelakakis; Dorothée Vicogne; Angel Ashikov; Marina Moraitou; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Marjolein A W van den Boogert; Francesco Porta; Pier Luigi Calvo; Mersyni Mavrikou; Giovanna Cenacchi; Geert van den Bogaart; Jody Salomon; Adriaan G Holleboom; Richard J Rodenburg; Joost P H Drenth; Martijn A Huynen; Ron A Wevers; Eva Morava; François Foulquier; Joris A Veltman; Dirk J Lefeber
Journal:  Am J Hum Genet       Date:  2016-01-28       Impact factor: 11.025

6.  CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Authors:  Jos C Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belén Pérez; Dorothée Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Pérez-Cerdá; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; Jaak Jaeken; Nathalie Guffon; David Cheillan; Lambertus P van den Heuvel; Yusuke Maeda; Olaf Kaiser; Ulrike Schara; Patrick Gerner; Marjolein A W van den Boogert; Adriaan G Holleboom; Marie-Cécile Nassogne; Etienne Sokal; Jody Salomon; Geert van den Bogaart; Joost P H Drenth; Martijn A Huynen; Joris A Veltman; Ron A Wevers; Eva Morava; Gert Matthijs; François Foulquier; Thorsten Marquardt; Dirk J Lefeber
Journal:  Am J Hum Genet       Date:  2016-01-28       Impact factor: 11.025

Review 7.  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

8.  ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

Authors:  Eric J R Jansen; Sharita Timal; Margret Ryan; Angel Ashikov; Monique van Scherpenzeel; Laurie A Graham; Hanna Mandel; Alexander Hoischen; Theodore C Iancu; Kimiyo Raymond; Gerry Steenbergen; Christian Gilissen; Karin Huijben; Nick H M van Bakel; Yusuke Maeda; Richard J Rodenburg; Maciej Adamowicz; Ellen Crushell; Hans Koenen; Darius Adams; Julia Vodopiutz; Susanne Greber-Platzer; Thomas Müller; Gregor Dueckers; Eva Morava; Jolanta Sykut-Cegielska; Gerard J M Martens; Ron A Wevers; Tim Niehues; Martijn A Huynen; Joris A Veltman; Tom H Stevens; Dirk J Lefeber
Journal:  Nat Commun       Date:  2016-05-27       Impact factor: 14.919

9.  Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Authors:  Rodrigo Tzovenos Starosta; Suzanne Boyer; Shawn Tahata; Kimiyo Raymond; Hee Eun Lee; Lynne A Wolfe; Christina Lam; Andrew C Edmondson; Ida Vanessa Doederlein Schwartz; Eva Morava
Journal:  Orphanet J Rare Dis       Date:  2021-01-07       Impact factor: 4.123

10.  Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.

Authors:  Ana Paula Pereira Scholz de Magalhães; Maira Graeff Burin; Carolina Fischinger Moura de Souza; Fernanda Hendges de Bitencourt; Fernanda Medeiros Sebastião; Thiago Oliveira Silva; Filippo Pinto E Vairo; Ida Vanessa Doederlein Schwartz
Journal:  J Pediatr (Rio J)       Date:  2019-10-31       Impact factor: 2.990
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