(Q60042755)

English

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

scientific article published on 01 April 1998

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

H Carchon

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

E Jansen

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

L Pavone

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

A Fiumara

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

N U Bosshard

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

R Gitzelmann

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

J Jaeken

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 April 1998

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

21

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

167-172

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9584269%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human leukocyte acid hydrolases: Characterization of eleven lysosomal enzymes and study of reaction conditions for their automated analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disialotransferrin developmental deficiency syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbohydrate-deficient glycoprotein syndrome with previously unreported features

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The assay of arylsulphatases A and B in human urine

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of glycosylation and phosphorylation in the expression of active human beta-glucuronidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9584269

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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