Development of liver disease despite mannose treatment in two patients with CDG-Ib. (Q34703306)

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9 January 2020

title

Development of liver disease despite mannose treatment in two patients with CDG-Ib (English)

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9 January 2020

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11

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author name string

Mention K

1

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9 January 2020

Lacaille F

2

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Valayannopoulos V

3

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Romano S

4

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Kuster A

5

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Cretz M

6

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Zaidan H

7

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Galmiche L

8

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Jaubert F

9

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de Keyzer Y

10

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de Lonlay P

12

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publication date

22 October 2007

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Molecular Genetics and Metabolism

9 January 2020

published in

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volume

93

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page(s)

40-43

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issue

1

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Congenital disorders of glycosylation: a booming chapter of pediatrics

9 January 2020

cites work

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Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome

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Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms

7 January 2021

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Congenital hepatic fibrosis combined with protein-losing enteropathy and recurrent thrombosis

7 January 2021

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Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation

7 January 2021

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Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

7 January 2021

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Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation"

7 January 2021

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Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease.

7 January 2021

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Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality

7 January 2021

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10.1016/J.YMGME.2007.08.126

7 January 2021

Identifiers

DOI

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9 January 2020

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