MOGS‐CDG: quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases

Merel Post, Isis de Wit, Fokje S. M. Zijlstra, Udo Engelke, Arno van Rooij, John Christodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito-Lee, Beom Hee Lee, Karen J. Low, Andrew Mallick, Katrin Õunap, James Pitt, William Reardon, Mari‐Anne Vals, Saskia B. Wortmann, Hans Wessels, Melissa BärenfängerClara D. M. van Karnebeek, Dirk J. Lefeber

Research output: Contribution to JournalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)313-325
JournalJournal of Inherited Metabolic Disease
Volume46
Issue number2
DOIs
Publication statusPublished - 18 Jan 2023
Externally publishedYes

Funding

The authors are grateful to all patients and their parents, all involved clinicians and laboratory specialists for their contributions to the study. Figures are made by Biorender. Glycomic studies were supported by ZonMw Medium Investment Grant 40‐00506‐98‐9001 and EUROGLYCAN‐omics (ERARE18‐117) by ZonMw (90030376501), under the frame of E‐Rare‐3, the ERA‐Net for Research on Rare Diseases. The research conducted at the Murdoch Children's Research Institute was supported by the State Government of Victoria's Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to JC is generously supported by The Royal Children's Hospital Foundation. Katrin Õunap and Mari‐Anne Vals are supported by Eesti Teadusagentuur grant PRG471. The research conduction at Amsterdam UMC is supported by Stichting Metakids, NL. Several author(s) (DJL, CvK, SBW) of this publication are (affiliated) members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) ‐ Project ID No. 739543. The funding organizations had no role in the design or conduct of this research. The authors are grateful to all patients and their parents, all involved clinicians and laboratory specialists for their contributions to the study. Figures are made by Biorender. Glycomic studies were supported by ZonMw Medium Investment Grant 40-00506-98-9001 and EUROGLYCAN-omics (ERARE18-117) by ZonMw (90030376501), under the frame of E-Rare-3, the ERA-Net for Research on Rare Diseases. The research conducted at the Murdoch Children's Research Institute was supported by the State Government of Victoria's Operational Infrastructure Support Program. The Chair in Genomic Medicine awarded to JC is generously supported by The Royal Children's Hospital Foundation. Katrin Õunap and Mari-Anne Vals are supported by Eesti Teadusagentuur grant PRG471. The research conduction at Amsterdam UMC is supported by Stichting Metakids, NL. Several author(s) (DJL, CvK, SBW) of this publication are (affiliated) members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No. 739543. The funding organizations had no role in the design or conduct of this research. E‐Rare, Grant/Award Number: 90030376501; Estonian Research Council, Grant/Award Number: PRG471; ZonMW Medium Investment Grant, Grant/Award Number: 40‐00506‐98‐9001; State Government of Victoria's Operational Infrastructure Support Program; The Royal Children's Hospital Foundation; Stichting Metakids Funding information

FundersFunder number
ERA‐Net for Research on Rare Diseases
European Reference Network for Rare Hereditary Metabolic Disorders739543
ZonMw Medium Investment
Royal Children's Hospital Foundation
Stichting Metakids
ZonMw40‐00506‐98‐9001, ERARE18‐117, 90030376501
Eesti TeadusagentuurPRG471
State Government of Victoria

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