(Q34203480)

31 July 2017

title

Ophthalmic manifestations of congenital disorder of glycosylation type 1a. (English)

1 reference

congenital disorder of glycosylation

31 July 2017

0 references

1 reference

1 reference

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Hanne Jensen

1

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31 July 2017

Susanne Kjaergaard

series ordinal

2

1 reference

31 July 2017

Flemming Klie

series ordinal

3

1 reference

31 July 2017

H U Moller

series ordinal

4

1 reference

31 July 2017

publication date

1 June 2003

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31 July 2017

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31 July 2017

volume

24

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31 July 2017

issue

2

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31 July 2017

page(s)

81-88

1 reference

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

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.2.81.13994

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.2.81.13994

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.2.81.13994

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.2.81.13994

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.2.81.13994

Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.2.81.13994

Reduced extracellular matrix in mammalian sclera with induced myopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.2.81.13994

Assessment of visual acuity in toddlers

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.2.81.13994

10.1076/OPGE.24.2.81.13994

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference