(Q34027037)

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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

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scholarly article

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Europe PubMed Central

30 July 2017

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Europe PubMed Central

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). (English)

1 reference

Europe PubMed Central

30 July 2017

congenital disorder

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based on heuristic

inferred from title

12

object named as

Pronicka E

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Europe PubMed Central

30 July 2017

Hudson H. Freeze

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ORCID Public Data File 2021

author name string

Schollen E

1

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Europe PubMed Central

30 July 2017

Dorland L

2

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Europe PubMed Central

30 July 2017

de Koning TJ

3

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Europe PubMed Central

30 July 2017

Van Diggelen OP

4

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Europe PubMed Central

30 July 2017

Huijmans JG

5

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Europe PubMed Central

30 July 2017

Marquardt T

6

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Europe PubMed Central

30 July 2017

Babovic-Vuksanovic D

7

1 reference

Europe PubMed Central

30 July 2017

Patterson M

8

1 reference

Europe PubMed Central

30 July 2017

Imtiaz F

9

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Europe PubMed Central

30 July 2017

Winchester B

10

1 reference

Europe PubMed Central

30 July 2017

Adamowicz M

11

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Europe PubMed Central

30 July 2017

Freeze H

13

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Europe PubMed Central

30 July 2017

Matthijs G

14

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30 July 2017

publication date

1 September 2000

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Europe PubMed Central

30 July 2017

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Europe PubMed Central

30 July 2017

16

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3

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30 July 2017

247-252

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Europe PubMed Central

30 July 2017

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

The x-ray crystal structure of phosphomannose isomerase from Candida albicans at 1.7 angstrom resolution

1 reference

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21 January 2018

Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

1 reference

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21 January 2018

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

1 reference

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21 January 2018

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

1 reference

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21 January 2018

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)

1 reference

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21 January 2018

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

1 reference

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21 January 2018

Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

New diagnosis and treatment of congenital hepatic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200009%2916%3A3%3C247%3A%3AAID-HUMU7%3E3.0.CO%3B2-A

21 January 2018

Identifiers

10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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