Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation (Q39623619)

13 September 2017

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

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13 September 2017

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10 June 2020

Wadih M Zein

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10 June 2020

Audrey Thurm

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10 June 2020

Cristan Farmer

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10 June 2020

Jonathan J. Lyons

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10 June 2020

John M Schreiber

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10 June 2020

Ellen Macnamara

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10 June 2020

Mariska Davids

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10 June 2020

author name string

Carlos Ferreira

2

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10 June 2020

Donna Krasnewich

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10 June 2020

Camilo Toro

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10 June 2020

Lea Latham

5

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10 June 2020

Tanya Lehky

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10 June 2020

Carmen Brewer

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10 June 2020

Eva H Baker

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10 June 2020

Sergio D Rosenzweig

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10 June 2020

Andrea Gropman

15

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10 June 2020

Shilpa Lingala

16

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10 June 2020

Marc G Ghany

17

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10 June 2020

Beth Solomon

18

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10 June 2020

Constantine A Stratakis

21

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10 June 2020

Virginia Kimonis

22

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10 June 2020

William A Gahl

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10 June 2020

Lynne Wolfe

24

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10 June 2020

language of work or name

English

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publication date

7 July 2016

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13 September 2017

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10 June 2020

volume

19

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10 June 2020

issue

2

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10 June 2020

page(s)

160-168

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

10 June 2020

exact match

0 references

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

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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

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

21 January 2018

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

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

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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7 January 2021

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

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

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

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Neurotransmitters in dementia

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