(Q28143783)

ORCID Public Data File 2021

author name string

F Imtiaz

1

0 references

V Worthington

2

0 references

M Champion

3

0 references

C Beesley

4

0 references

J Charlwood

5

0 references

P Clayton

6

0 references

G Keir

7

0 references

N Mian

8

0 references

B Winchester

9

0 references

F. Imtiaz

1

0 references

V. Worthington

2

0 references

M. Champion

3

0 references

C. Beesley

4

0 references

J. Charlwood

5

0 references

P. Clayton

6

0 references

G. Keir

7

0 references

N. Mian

8

0 references

B. Winchester

Journal of Inherited Metabolic Disease

9

0 references

language of work or name

English

0 references

publication date

March 2000

0 references

2000

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published in

0 references

volume

23

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issue

2

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page(s)

162-74

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162-174

0 references

cites work

The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation

1 reference

12 December 2020

Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development

1 reference

12 December 2020

Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling

1 reference

12 December 2020

Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome type 2

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

1 reference

12 December 2020

PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus

1 reference

12 December 2020

A new variant of the carbohydrate deficient glycoproteins syndrome

1 reference

12 December 2020

Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities.

1 reference

12 December 2020

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

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities

1 reference

12 December 2020

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.

1 reference

12 December 2020

Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I

1 reference

12 December 2020

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

1 reference

12 December 2020

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

1 reference

12 December 2020

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

1 reference

12 December 2020

Disorders in protein glycosylation and potential therapy: tip of an iceberg?

1 reference

12 December 2020

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

1 reference

12 December 2020

Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome

1 reference

12 December 2020

Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay

1 reference

12 December 2020

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005669900330

7 January 2021

inferred from DOI database lookup

Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation

1 reference

12 December 2020

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

1 reference

12 December 2020

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

1 reference

12 December 2020

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

1 reference

12 December 2020

Carbohydrate deficient glycoprotein (CDG) syndrome type I

1 reference

12 December 2020

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

1 reference

12 December 2020

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1 reference

12 December 2020

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

1 reference

12 December 2020

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome.

1 reference

12 December 2020