(Q37773630)

22 August 2017

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title

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? (English)

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22 August 2017

12

Tania Attié-Bitach

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Nathalie Seta

object named as

Nathalie Seta

11

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author name string

Nadia Léticée

1

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22 August 2017

Bettina Bessières-Grattagliano

2

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22 August 2017

Thierry Dupré

3

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22 August 2017

Sandrine Vuillaumier-Barrot

4

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22 August 2017

Pascale de Lonlay

5

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22 August 2017

Ferechté Razavi

6

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22 August 2017

Nadia El Khartoufi

7

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22 August 2017

Yves Ville

8

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22 August 2017

Michel Vekemans

9

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22 August 2017

Raymonde Bouvier

10

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22 August 2017

publication date

22 June 2010

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Molecular Genetics and Metabolism

22 August 2017

published in

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22 August 2017

volume

101

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22 August 2017

issue

2-3

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22 August 2017

page(s)

253-257

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Etiology of nonimmune hydrops fetalis: a systematic review

22 August 2017

cites work

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Investigation of lysosomal storage diseases in nonimmune hydrops fetalis

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Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology

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Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema

7 January 2021

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Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

7 January 2021

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Congenital disorders of glycosylation type Ia as a cause of mirror syndrome

7 January 2021

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

7 January 2021

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Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

7 January 2021

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Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

7 January 2021

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Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

7 January 2021

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A new case of ALG8 deficiency (CDG Ih).

7 January 2021

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A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: early fetal loss with hydrops fetalis, and infant death with hypoproteinemia

7 January 2021

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A new insight into PMM2 mutations in the French population

7 January 2021

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Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

7 January 2021

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Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease

7 January 2021

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

7 January 2021

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

7 January 2021

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Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

7 January 2021

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DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

7 January 2021

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Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

7 January 2021

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Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops

7 January 2021

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Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally

7 January 2021

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Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus

7 January 2021

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The prenatal diagnosis of congenital disorders of glycosylation (CDG).

7 January 2021

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Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins

7 January 2021

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10.1016/J.YMGME.2010.06.009

7 January 2021

Identifiers

DOI

1 reference

22 August 2017

1 reference