(Q39623619)

13 September 2017

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation (English)

1 reference

13 September 2017

0 references

1 reference

1

1 reference

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10 June 2020

Wadih M Zein

6

1 reference

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10 June 2020

Audrey Thurm

10

1 reference

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10 June 2020

Cristan Farmer

11

1 reference

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10 June 2020

Jonathan J. Lyons

13

1 reference

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10 June 2020

John M Schreiber

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27388694%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ellen Macnamara

19

1 reference

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10 June 2020

Mariska Davids

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27388694%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Carlos Ferreira

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27388694%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Donna Krasnewich

3

1 reference

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10 June 2020

Camilo Toro

4

1 reference

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10 June 2020

Lea Latham

5

1 reference

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10 June 2020

Tanya Lehky

7

1 reference

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10 June 2020

Carmen Brewer

8

1 reference

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10 June 2020

Eva H Baker

9

1 reference

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10 June 2020

Sergio D Rosenzweig

12

1 reference

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10 June 2020

Andrea Gropman

15

1 reference

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10 June 2020

Shilpa Lingala

16

1 reference

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10 June 2020

Marc G Ghany

17

1 reference

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10 June 2020

Beth Solomon

18

1 reference

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10 June 2020

Constantine A Stratakis

21

1 reference

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10 June 2020

Virginia Kimonis

22

1 reference

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10 June 2020

William A Gahl

23

1 reference

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10 June 2020

Lynne Wolfe

24

1 reference

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10 June 2020

language of work or name

English

0 references

publication date

7 July 2016

1 reference

13 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27388694%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

19

1 reference

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10 June 2020

page(s)

160-168

1 reference

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10 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27388694%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2016.75

10 June 2020

exact match

0 references

cites work

Diseases of glycosylation beyond classical congenital disorders of glycosylation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

21 January 2018

1 reference

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Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Clinical application of exome sequencing in undiagnosed genetic conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Demonstration of a new amidase acting on glycopeptides

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Utilization of FibroScan in clinical practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Immunocytochemical localization of N-acetyl-aspartate with monoclonal antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

A review of chemical issues in 1H NMR spectroscopy: N-acetyl-L-aspartate, creatine and choline

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Multinuclear NMR studies on the energy metabolism of glial and neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Guidelines on routine cerebrospinal fluid analysis. Report from an EFNS task force

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Endo-β-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.75

Secondary abnormalities of neurotransmitters in infants with neurological disorders

21 January 2018

2 references

12 December 2020

https://api.crossref.org/works/10.1038%2FGIM.2016.75

7 January 2021

inferred from DOI database lookup

Inflammatory CNS demyelination: histopathologic correlation with in vivo quantitative proton MR spectroscopy.

1 reference

12 December 2020

1 reference

12 December 2020

Proton nuclear magnetic resonance spectroscopy of primary cells derived from nervous tissue.

1 reference

12 December 2020

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

1 reference

12 December 2020

Neurotransmitters in dementia

1 reference

12 December 2020