Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose (Q78254436)

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scientific article published on 01 September 1999

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English	Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose	scientific article published on 01 September 1999

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scholarly article

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13 December 2019

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

1 reference

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13 December 2019

1 reference

based on heuristic

inferred from title

hyperinsulinemic hypoglycemia

1 reference

based on heuristic

inferred from title

9

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13 December 2019

author name string

P de Lonlay

1

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13 December 2019

M Cuer

2

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13 December 2019

S Vuillaumier-Barrot

3

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13 December 2019

G Beaune

4

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13 December 2019

P Castelnau

5

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13 December 2019

M Kretz

6

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13 December 2019

G Durand

7

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13 December 2019

J M Saudubray

8

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1 September 1999

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13 December 2019

The Journal of Pediatrics

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13 December 2019

135

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13 December 2019

3

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379-383

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13 December 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

Carbohydrate deficient glycoprotein (CDG) syndrome type I

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

Modification of enzymatically amplified DNA for the detection of point mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

Mechanism of mannose toxicity

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970139-3

7 January 2021

Identifiers

10.1016/S0022-3476(99)70139-3

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13 December 2019

1 reference

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13 December 2019

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