Nutritional Therapies in Congenital Disorders of Glycosylation (CDG). (Q47115793)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112118%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

review article

0 references

title

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112118%20AND%20SRC:MED&resulttype=core&format=json

congenital disorder of glycosylation

9 April 2020

main subject

6 references

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25 June 2019

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112118%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Eva Morava

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112118%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

author name string

David Cassiman

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112118%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

publication date

7 November 2017

7 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

25 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112118%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

7 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

25 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112118%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

volume

9

1 reference

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9 April 2020

issue

11

1 reference

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Creative Commons Attribution

9 April 2020

copyright license

6 references

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24 March 2019

22 April 2019

25 April 2019

25 June 2019

0 references

on focus list of Wikimedia project

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

23 May 2018

1 reference

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CAD mutations and uridine-responsive epileptic encephalopathy.

23 May 2018

1 reference

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ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

23 May 2018

1 reference

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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

23 May 2018

1 reference

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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

23 May 2018

1 reference

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SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

23 May 2018

1 reference

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News on Clinical Details and Treatment in PGM1-CDG

23 May 2018

1 reference

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Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

23 May 2018

1 reference

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Congenital disorders of glycosylation: new defects and still counting

23 May 2018

1 reference

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Multiple phenotypes in phosphoglucomutase 1 deficiency

23 May 2018

1 reference

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MAN1B1 deficiency: an unexpected CDG-II

23 May 2018

1 reference

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De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

23 May 2018

1 reference

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Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

23 May 2018

1 reference

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DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

23 May 2018

1 reference

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TMEM165 deficiency causes a congenital disorder of glycosylation

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Congenital disorders of glycosylation: sweet news

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

CDG nomenclature: time for a change!

23 May 2018

1 reference

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Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients

23 May 2018

1 reference

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The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Development of liver disease despite mannose treatment in two patients with CDG-Ib.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Nutrition for children with cholestatic liver disease

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Correction of leukocyte adhesion deficiency type II with oral fucose

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

23 May 2018

1 reference

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Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Congenital disorders of glycosylation (CDG): Quo vadis?

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Oral D-galactose supplementation in PGM1-CDG.

15 August 2018

1 reference

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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

15 August 2018

1 reference

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Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.

15 August 2018

1 reference

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A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

15 August 2018

1 reference

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A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

15 August 2018

1 reference

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How to find and diagnose a CDG due to defective N-glycosylation

15 August 2018

1 reference

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Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG).

15 August 2018

1 reference

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The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5707694

Successful liver transplantation and long-term follow-up in a patient with MPI-CDG

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29112118

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29112118

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3390/NU9111222

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112118%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29112118%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

1 reference