Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. (Q37598110)

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7 February 2020

review article

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title

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review (English)

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7 February 2020

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7

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Stuart E H Moore

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Nathalie Seta

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author name string

E J Footitt

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A Karimova

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M Burch

3

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T Yayeh

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T Dupré

5

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S Vuillaumier-Barrot

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S Grunewald

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publication date

7 September 2009

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Journal of Inherited Metabolic Disease

7 February 2020

published in

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volume

32 Suppl 1

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page(s)

S313-9

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Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.

7 February 2020

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

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Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

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

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Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders

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Human RFT1 deficiency leads to a disorder of N-linked glycosylation

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Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome

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Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay

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

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12 December 2020

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).

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Congenital disorders of glycosylation: a rapidly expanding disease family

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On the nomenclature of congenital disorders of glycosylation (CDG).

21 January 2018

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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.

21 January 2018

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A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

21 January 2018

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N-cadherin is required for neural crest remodeling of the cardiac outflow tract

21 January 2018

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Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a.

21 January 2018

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A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

21 January 2018

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Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

21 January 2018

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Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy

21 January 2018

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CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

21 January 2018

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Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

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Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

21 January 2018

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12 December 2020

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

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12 December 2020

Carbohydrate-deficient glycoprotein syndromes: the Italian experience

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

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12 December 2020

Cardiomyopathy in congenital disorders of glycosylation.

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12 December 2020

The liver in congenital disorders of glycosylation: ultrastructural features

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12 December 2020

Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In).

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12 December 2020

Muscular dystrophies due to defective glycosylation of dystroglycan

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12 December 2020

10.1007/S10545-009-1262-1

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19757145%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

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