(Q73296024)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12705494%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12705494%20AND%20SRC:MED&resulttype=core&format=json

congenital disorder of glycosylation type Ia

2 November 2019

main subject

0 references

1 reference

1 reference

1 reference

10.1023/A:1022825113506

https://api.crossref.org/works/10.1023/A:1022825113506

26 December 2023

7

R. Artuch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705494

26 December 2023

Emile Van Schaftingen

10

object named as

E. van Schaftingen

1 reference

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26 December 2023

11

G. Matthijs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705494

26 December 2023

author name string

P. Briones

1

1 reference

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26 December 2023

M. A. Vilaseca

2

1 reference

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26 December 2023

E. Schollen

3

1 reference

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26 December 2023

I. Ferrer

4

1 reference

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26 December 2023

M. Maties

5

1 reference

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26 December 2023

C. Busquets

6

1 reference

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26 December 2023

L. Gort

8

1 reference

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26 December 2023

M. Marco

9

1 reference

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26 December 2023

J. Jaeken

12

1 reference

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26 December 2023

A. Chabás

13

1 reference

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26 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12705494

26 December 2023

publication date

1 December 2002

1 reference

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full work available at URL

2 November 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1022825113506

1 reference

Crossref

DOI

10.1023/A:1022825113506

https://api.crossref.org/works/10.1023/A:1022825113506

https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1022825113506

26 December 2023

1 reference

Crossref

DOI

10.1023/A:1022825113506

https://api.crossref.org/works/10.1023/A:1022825113506

Journal of Inherited Metabolic Disease

26 December 2023

published in

1 reference

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2 November 2019

volume

25

1 reference

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2 November 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12705494%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

635-646

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12705494%20AND%20SRC:MED&resulttype=core&format=json

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

2 November 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndromes: the Italian experience

1 reference

12 December 2020

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

1 reference

12 December 2020

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)

1 reference

12 December 2020

Disorders in protein glycosylation and potential therapy: tip of an iceberg?

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

1 reference

12 December 2020

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1022825113506

7 January 2021

inferred from DOI database lookup

Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation

1 reference

12 December 2020

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

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

Congenital disorders of glycosylation

1 reference

12 December 2020

Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation

1 reference

12 December 2020

Carbohydrate deficient serum transferrin in a new systemic hereditary 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

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

1 reference

12 December 2020

Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII

1 reference

12 December 2020

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

1 reference

12 December 2020

What's new in congenital disorders of glycosylation?

1 reference

12 December 2020

Phosphomannomutase deficiency and normal pubertal development

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

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

1 reference

12 December 2020