(Q74536508)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

B Kristiansson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

H Stibler

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

N Conradi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

B O Eriksson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

W Ryd

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 April 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

11 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

112-124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584262%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005387408009

11 November 2019

exact match

0 references

cites work

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders

1 reference

12 December 2020

Disialotransferrin developmental deficiency syndrome

1 reference

12 December 2020

Characterization of α-L-fucosidase from two different families with fucosidosis

1 reference

12 December 2020

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

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

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease

1 reference

12 December 2020

Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I

1 reference

12 December 2020

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

12 December 2020

Postpericardiotomy syndrome following surgery for nonrheumatic heart disease

1 reference

12 December 2020

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome: electrophoretic study of multiple serum glycoproteins

1 reference

12 December 2020

Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families

1 reference

12 December 2020

Improved electrophoretic method for the analysis of dystrophin in human muscle

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

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

1 reference

12 December 2020

Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome

1 reference

12 December 2020

Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome

1 reference

12 December 2020

The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

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

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

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

1 reference

12 December 2020