Oral D-galactose supplementation in PGM1-CDG. (Q47106452)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28617415%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

title

Oral D-galactose supplementation in PGM1-CDG (English)

1 reference

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22 March 2020

author

Jolanta Sykut-Cegielska

9

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22 March 2020

David Do Nguyen

16

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22 March 2020

Nurulamin Abu Bakar

21

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22 March 2020

8

Francis Bowling

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22 March 2020

26

Dirk J Lefeber

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22 March 2020

29

Eva Morava

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22 March 2020

author name string

Sunnie Yan-Wai Wong

1

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22 March 2020

Therese Gadomski

2

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22 March 2020

Monique van Scherpenzeel

3

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22 March 2020

Tomas Honzik

4

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22 March 2020

Hana Hansikova

5

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22 March 2020

Katja S Brocke Holmefjord

6

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22 March 2020

Marit Mork

7

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22 March 2020

Dieter Koch

10

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22 March 2020

Jozef Hertecant

11

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22 March 2020

Graeme Preston

12

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22 March 2020

Jaak Jaeken

13

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22 March 2020

Nicole Peeters

14

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22 March 2020

Stefanie Perez

15

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22 March 2020

Kea Crivelly

17

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22 March 2020

Tim Emmerzaal

18

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22 March 2020

K Michael Gibson

19

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22 March 2020

Kimiyo Raymond

20

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22 March 2020

Francois Foulquier

22

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22 March 2020

Gernot Poschet

23

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22 March 2020

Amanda M Ackermann

24

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22 March 2020

Miao He

25

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22 March 2020

Christian Thiel

27

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22 March 2020

Tamas Kozicz

28

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22 March 2020

language of work or name

English

0 references

publication date

15 June 2017

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22 March 2020

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22 March 2020

volume

19

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22 March 2020

page(s)

1226-1235

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22 March 2020

issue

11

1 reference

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https://scigraph.springernature.com/pub.10.1038/gim.2017.41

22 March 2020

exact match

0 references

cites work

Perhaps a wee bit of sugar would help

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

23 May 2018

1 reference

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Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

Congenital disorders of glycosylation: new defects and still counting

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

Multiple phenotypes in phosphoglucomutase 1 deficiency

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

The metabolic origins of mannose in glycoproteins

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders 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=5675745

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5675745

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

15 August 2018

1 reference

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Muscle glycogenosis due to phosphoglucomutase 1 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=5675745

FSGS permeability factor-associated nephrotic syndrome: remission after oral galactose therapy

15 August 2018

1 reference

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Intracellular nucleotide and nucleotide sugar contents of cultured CHO cells determined by a fast, sensitive, and high-resolution ion-pair RP-HPLC.

15 August 2018

1 reference

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15 August 2018

Identifiers

DOI

10.1038/GIM.2017.41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28617415%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28617415%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference