Multiple phenotypes in phosphoglucomutase 1 deficiency (Q35216844)

24499211

7 August 2017

title

Multiple phenotypes in phosphoglucomutase 1 deficiency. (English)

1 reference

7 August 2017

15

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Joris A Veltman

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Elzbieta Czarnowska

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Charles A Stanley

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Piotr Socha

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Jolanta Sykut-Cegielska

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Pietro Vajro

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Can Ficicioglu

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Hudson H. Freeze

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Eva Morava

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author name string

Laura C Tegtmeyer

1

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Stephan Rust

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Monique van Scherpenzeel

3

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Bobby G Ng

4

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Marie-Estelle Losfeld

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Sharita Timal

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Kimiyo Raymond

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Ping He

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Mie Ichikawa

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Karin Huijben

11

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Yoon S Shin

12

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Vandana Sharma

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Maciej Adamowicz

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Janine Reunert

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Anika Witten

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Esther Schrapers

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Jaak Jaeken

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Daisy Rymen

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Tanya Stojkovic

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Pascal Laforêt

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Olivier Aumaître

25

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Monique Piraud

27

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Teodor Podskarbi

28

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Soraya Seyyedi

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Volker Debus

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Francjan van Spronsen

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Linda de Meirleir

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Terry DeClue

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Yoshinao Wada

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Ron A Wevers

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Dieter Vanderschaeghe

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Ralph Fingerhut

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Dirk J Lefeber

49

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Thorsten Marquardt

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language of work or name

English

0 references

publication date

1 February 2014

1 reference

24499211

The New England Journal of Medicine

7 August 2017

published in

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volume

370

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issue

6

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page(s)

533-542

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A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy

4 June 2020

cites work

1 reference

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28 July 2018

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Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy

28 July 2018

1 reference

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Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation

28 July 2018

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28 July 2018

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Skeletal muscle glycogenosis: an investigation of two dissimilar cases

28 July 2018

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28 July 2018

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28 July 2018

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A kinetic study of the isozymes determined by the three human phosphoglucomutase loci PGM1, PGM2, and PGM3.

28 July 2018

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Infantile muscle glycogen storage disease: phosphoglucomutase deficiency with decreased muscle and serum carnitine levels

28 July 2018

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A case of adult onset phosphoglucomutase deficiency

28 July 2018

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A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

28 July 2018

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Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells

26 September 2018

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

26 September 2018

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Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

26 September 2018

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Muscle glycogenosis due to phosphoglucomutase 1 deficiency

26 September 2018

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26 September 2018

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Compartmentation of lactate originating from glycogen and glucose in cultured astrocytes

26 September 2018

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Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

26 September 2018

1 reference

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Analysis of nucleotide sugars from cell lysates by ion-pair solid-phase extraction and reversed-phase high-performance liquid chromatography

26 September 2018

1 reference

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Optimized separation and quantitation of serum and cerebrospinal fluid transferrin subfractions defined by differences in iron saturation or glycan composition

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24499211

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24499211

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1056/NEJMOA1206605

1 reference

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4 June 2020

1 reference

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4 June 2020

24499211

1 reference