(Q48647928)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

congenital disorder of glycosylation type Ia

16 January 2020

main subject

0 references

1 reference

1 reference

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Kerrie L Schoffer

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Jim McGill

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

language of work or name

English

0 references

publication date

1 June 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

869-872

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

Neurological Presentation in Pediatric Patients with Congenital Disorders of Glycosylation Type Ia

16 January 2020

cites work

1 reference

Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics

21 January 2018

1 reference

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

21 January 2018

1 reference

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

21 January 2018

1 reference

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

21 January 2018

1 reference

Congenital disorders of glycosylation: a booming chapter of pediatrics

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.20804

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16482534%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference