MOGS-CDG: Quantitative analysis of the diagnostic Glc
        3 Man tetrasaccharide and clinical spectrum of six new cases.

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

doi:10.1002/jimd.12588

MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases.

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

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

7 Citations (Web of Science)

Original language	English
Pages (from-to)	313-325
Number of pages	13
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	46
Issue number	2
DOIs	https://doi.org/10.1002/jimd.12588
Publication status	Published - Mar 2023

Keywords

CONGENITAL DISORDERS
DYSMORPHIC FEATURES
GLYCOSYLATION
GLUCOSIDASE
PATIENT
IIB
Polysaccharides
Congenital Disorders of Glycosylation/genetics
Oligosaccharides/metabolism
Humans
Mass Spectrometry/methods
Seizures

Access to Document

10.1002/jimd.12588

Cite this

Post, M. A., de Wit, I., Zijlstra, F. S. M., Engelke, U. F. H., van Rooij, A., Christodoulou, J., Tan, T. Y., Le Fevre, A., Jin, D., Yaplito-Lee, J., Lee, B. H., Low, K. J., Mallick, A. A., Õunap, K., Pitt, J., Reardon, W., Vals, M.-A., Wortmann, S., Wessels, H. J. C. T., ... Lefeber, D. J. (2023). MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases. JOURNAL OF INHERITED METABOLIC DISEASE , 46(2), 313-325. https://doi.org/10.1002/jimd.12588

Post, Merel A ; de Wit, Isis ; Zijlstra, Fokje S M et al. / MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases. In: JOURNAL OF INHERITED METABOLIC DISEASE 2023 ; Vol. 46, No. 2. pp. 313-325.

@article{f6826391130e4b88b0b125695c2118c6,

title = "MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases.",

keywords = "CONGENITAL DISORDERS, DYSMORPHIC FEATURES, GLYCOSYLATION, GLUCOSIDASE, PATIENT, IIB, Polysaccharides, Congenital Disorders of Glycosylation/genetics, Oligosaccharides/metabolism, Humans, Mass Spectrometry/methods, Seizures",

author = "Post, {Merel A} and {de Wit}, Isis and Zijlstra, {Fokje S M} and Engelke, {Udo F H} and {van Rooij}, Arno and John Christodoulou and Tan, {Tiong Yang} and {Le Fevre}, Anna and Danqun Jin and Joy Yaplito-Lee and Lee, {Beom Hee} and Low, {Karen J} and Mallick, {Andrew A} and Katrin {\~O}unap and James Pitt and William Reardon and Mari-Anne Vals and Saskia Wortmann and Wessels, {Hans J C T} and Melissa B{\"a}renf{\"a}nger and {van Karnebeek}, {Clara D M} and Lefeber, {Dirk J}",

note = "Wortmann: University Children's Hospital, Paracelsus Medical University, Salzburg, Austria {\textcopyright} 2023 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.",

year = "2023",

month = mar,

doi = "10.1002/jimd.12588",

language = "English",

volume = "46",

pages = "313--325",

journal = "JOURNAL OF INHERITED METABOLIC DISEASE ",

issn = "0141-8955",

publisher = "Wiley Verlag ",

number = "2",

}

Post, MA, de Wit, I, Zijlstra, FSM, Engelke, UFH, van Rooij, A, Christodoulou, J, Tan, TY, Le Fevre, A, Jin, D, Yaplito-Lee, J, Lee, BH, Low, KJ, Mallick, AA, Õunap, K, Pitt, J, Reardon, W, Vals, M-A, Wortmann, S, Wessels, HJCT, Bärenfänger, M, van Karnebeek, CDM & Lefeber, DJ 2023, 'MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 46, no. 2, pp. 313-325. https://doi.org/10.1002/jimd.12588

MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases. / Post, Merel A; de Wit, Isis; Zijlstra, Fokje S M et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 46, No. 2, 03.2023, p. 313-325.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases.

AU - Post, Merel A

AU - de Wit, Isis

AU - Zijlstra, Fokje S M

AU - Engelke, Udo F H

AU - van Rooij, Arno

AU - Christodoulou, John

AU - Tan, Tiong Yang

AU - Le Fevre, Anna

AU - Jin, Danqun

AU - Yaplito-Lee, Joy

AU - Lee, Beom Hee

AU - Low, Karen J

AU - Mallick, Andrew A

AU - Õunap, Katrin

AU - Pitt, James

AU - Reardon, William

AU - Vals, Mari-Anne

AU - Wortmann, Saskia

AU - Wessels, Hans J C T

AU - Bärenfänger, Melissa

AU - van Karnebeek, Clara D M

AU - Lefeber, Dirk J

N1 - Wortmann: University Children's Hospital, Paracelsus Medical University, Salzburg, Austria © 2023 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

PY - 2023/3

Y1 - 2023/3

KW - CONGENITAL DISORDERS

KW - DYSMORPHIC FEATURES

KW - GLYCOSYLATION

KW - GLUCOSIDASE

KW - PATIENT

KW - IIB

KW - Polysaccharides

KW - Congenital Disorders of Glycosylation/genetics

KW - Oligosaccharides/metabolism

KW - Humans

KW - Mass Spectrometry/methods

KW - Seizures

U2 - 10.1002/jimd.12588

DO - 10.1002/jimd.12588

M3 - Original Article

C2 - 36651519

SN - 0141-8955

VL - 46

SP - 313

EP - 325

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 2

ER -

Post MA, de Wit I, Zijlstra FSM, Engelke UFH, van Rooij A, Christodoulou J et al. MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases. JOURNAL OF INHERITED METABOLIC DISEASE . 2023 Mar;46(2):313-325. doi: 10.1002/jimd.12588