(Q37581499)

21 August 2017

1 reference

title

A new case of ALG8 deficiency (CDG Ih). (English)

1 reference

21 August 2017

8

1 reference

21 August 2017

T Honzik

2

0 references

author name string

K Vesela

1

1 reference

21 August 2017

H Hansikova

3

1 reference

21 August 2017

M A Haeuptle

4

1 reference

21 August 2017

J Semberova

5

1 reference

21 August 2017

Z Stranak

6

1 reference

21 August 2017

T Hennet

7

1 reference

21 August 2017

publication date

18 August 2009

1 reference

Journal of Inherited Metabolic Disease

21 August 2017

published in

1 reference

21 August 2017

volume

32 Suppl 1

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-009-1203-z

21 August 2017

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1203-Z

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1203-Z

Human RFT1 deficiency leads to a disorder of N-linked glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1203-Z

Congenital disorders of glycosylation: a rapidly expanding disease family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1203-Z

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1203-Z

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19688606

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19688606

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The analysis of human serum transferrins with the PhastSystem: quantitation of microheterogeneity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19688606

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-009-1203-Z

0 references

1 reference