(Q42941061)

11 November 2017

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Congenital disorder of glycosylation type Ia presenting with hydrops fetalis (English)

1 reference

congenital disorder of glycosylation type Ia

11 November 2017

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1 reference

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J M van de Kamp

1

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11 November 2017

D J Lefeber

2

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11 November 2017

G J G Ruijter

3

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11 November 2017

S J Steggerda

4

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11 November 2017

N S den Hollander

5

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11 November 2017

S M Willems

6

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11 November 2017

G Matthijs

7

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11 November 2017

B J H M Poorthuis

8

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11 November 2017

R A Wevers

9

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11 November 2017

language of work or name

English

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publication date

8 December 2006

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Journal of Medical Genetics

11 November 2017

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11 November 2017

44

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11 November 2017

4

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11 November 2017

277-280

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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

11 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

Cardiomyopathy in congenital disorders of glycosylation.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

Regulated secretion of glycosylated human ferritin from hepatocytes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

The carbohydrate-deficient glycoprotein syndromes: an overview

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598051

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

16 August 2018

1 reference

12 December 2020

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

1 reference

12 December 2020

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

1 reference

12 December 2020

Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally

1 reference

12 December 2020

Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)

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

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

1 reference

12 December 2020

A new insight into PMM2 mutations in the French population

1 reference

12 December 2020

Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG)

1 reference

12 December 2020

Investigation of lysosomal storage diseases in nonimmune hydrops fetalis

1 reference

12 December 2020

Nonimmunologic hydrops fetalis

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.044735

1 reference

11 November 2017

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11 November 2017

PubMed publication ID

17158594

1 reference