(Q60042760)

English

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

scientific article published on 01 July 1997

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266378%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9266378%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

2

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5 November 2019

3

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5 November 2019

15

1 reference

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5 November 2019

author name string

J Jaeken

1

1 reference

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5 November 2019

A Fiumara

4

1 reference

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5 November 2019

T J de Koning

5

1 reference

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5 November 2019

B T Poll-The

6

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5 November 2019

J F de Rijk-van Andel

7

1 reference

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5 November 2019

G F Hoffmann

8

1 reference

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5 November 2019

B Assmann

9

1 reference

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5 November 2019

E Mayatepek

10

1 reference

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5 November 2019

M Pineda

11

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5 November 2019

M A Vilaseca

12

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5 November 2019

J M Saudubray

13

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5 November 2019

B Schlüter

14

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5 November 2019

E Van Schaftingen

16

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5 November 2019

publication date

1 July 1997

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5 November 2019

Journal of Inherited Metabolic Disease

1 reference

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5 November 2019

20

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5 November 2019

3

1 reference

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5 November 2019

447-449

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5 November 2019

https://scigraph.springernature.com/pub.10.1023/a:1005331523477

0 references

Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Protein glycosylation deficiency: clinical presentation]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbohydrate-deficient glycoprotein syndrome with previously unreported features

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbohydrate deficient glycoprotein (CDG) syndrome type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The carbohydrate deficient glycoprotein syndrome in three Japanese children

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266378

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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