Thyroid function in PMM2-CDG: diagnostic approach and proposed management (Q83564438)

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24 January 2020

title

Thyroid function in PMM2-CDG: diagnostic approach and proposed management (English)

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Hedi Claahsen-van der Grinten

24 January 2020

author

3

object named as

Hedi Claahsen-van der Grinten

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24 January 2020

author name string

Miski Mohamed

1

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24 January 2020

Miranda Theodore

2

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24 January 2020

Antonius E van Herwaarden

4

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24 January 2020

Karin Huijben

5

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Lotte van Dongen

6

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24 January 2020

Dorus Kouwenberg

7

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24 January 2020

Dirk J Lefeber

8

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24 January 2020

Ron A Wevers

9

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Eva Morava

10

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publication date

13 February 2012

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Molecular Genetics and Metabolism

24 January 2020

published in

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24 January 2020

volume

105

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24 January 2020

page(s)

681-683

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24 January 2020

issue

4

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CDG nomenclature: time for a change!

24 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

The congenital disorders of glycosylation: a multifaceted group of syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

Congenital disorders of glycosylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

Congenital disorder of glycosylation-Ic: case report and genetic defect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

How to find and diagnose a CDG due to defective N-glycosylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

Pediatric reference intervals for thyroid hormone levels from birth to adulthood: a retrospective study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

A new inherited abnormality of thyroxine-binding globulin (TBG-San Diego) with decreased affinity for thyroxine and triiodothyronine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.001

10.1016/J.YMGME.2012.02.001

7 January 2021

Identifiers

DOI

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24 January 2020

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