(Q34348805)

1 August 2017

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title

The carbohydrate-deficient glycoprotein syndromes: an overview (English)

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1 August 2017

Jaeken J

1

1 reference

PubMed ID

8295395

1 August 2017

Carchon H

series ordinal

2

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1 August 2017

1 January 1993

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Journal of Inherited Metabolic Disease

1 August 2017

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1 August 2017

16

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1 August 2017

5

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1 August 2017

813-820

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https://scigraph.springernature.com/pub.10.1007/bf00714272

1 August 2017

0 references

cites work

Wiskott-Aldrich syndrome: new molecular and biochemical insights

1 reference

12 December 2020

A modified method for the assay of carbohydrate-deficient transferrin (CDT) in serum

1 reference

12 December 2020

Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?

1 reference

12 December 2020

Disialotransferrin developmental deficiency syndrome and olivopontocerebellar atrophy

1 reference

12 December 2020

Disialotransferrin developmental deficiency syndrome

1 reference

12 December 2020

Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome

1 reference

12 December 2020

A new variant of the carbohydrate deficient glycoproteins syndrome

1 reference

12 December 2020

An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins

1 reference

12 December 2020

Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities.

1 reference

12 December 2020

Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome.

1 reference

12 December 2020

Glycoprotein glycosyltransferase activities in serum in alcohol-abusing patients and healthy controls

1 reference

12 December 2020

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement

1 reference

12 December 2020

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

1 reference

12 December 2020

Diagnosis and nosology of glycanosis CDG ("carbohydrate deficient glycoprotein syndrome")

1 reference

12 December 2020

A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency

1 reference

12 December 2020

Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome

1 reference

12 December 2020

Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome

1 reference

12 December 2020

Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption (Swedish Patent 8400587-5)

1 reference

12 December 2020

Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots

1 reference

12 December 2020

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

1 reference

12 December 2020

Early manifestations of the carbohydrate-deficient glycoprotein syndrome.

1 reference

12 December 2020

Serum lysosomal enzyme abnormalities in galactosaemia

1 reference

12 December 2020

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

1 reference

12 December 2020

Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes

1 reference

12 December 2020

1 reference

12 December 2020

HEMPAS disease: genetic defect of glycosylation

1 reference

12 December 2020

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

The carbohydrate deficient glycoprotein syndrome in three Japanese children

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00714272

1 reference

PubMed ID

8295395

Dimensions Publication ID

1 August 2017

0 references

1 reference

PubMed ID

8295395