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Details on Person Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)
| Class:Id | LiteratureReference:449635 |
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| _displayName | Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) |
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| _timestamp | 2011-09-29 16:47:20 |
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| author | [Person:449234] Schollen, E
[Person:449215] Frank, CG
[Person:449646] Keldermans, L
[Person:449641] Reyntjens, R
[Person:449216] Grubenmann, CE
[Person:193462] Clayton, Peter T
[Person:449633] Winchester, BG
[Person:164777] Smeitink, J
[Person:200270] Wevers, RA
[Person:1426004] Aebi, M
[Person:449291] Hennet, T
[Person:449294] Matthijs, G |
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| created | [InstanceEdit:449648] Jassal, B, 2009-12-02 |
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| journal | J Med Genet |
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| modified | [InstanceEdit:1614742] D'Eustachio, P, 2011-09-29 |
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| pages | 550-6 |
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| pubMedIdentifier | 15235028 |
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| title | Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency) |
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| volume | 41 |
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| year | 2004 |
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| (literatureReference) | [Reaction:446189] Addition of a second glucose to the N-glycan precursor by ALG8 [Homo sapiens]
[Pathway:4724325] Defective ALG8 causes CDG-1h [Homo sapiens]
[FailedReaction:4724330] Defective ALG8 does not add glucose to the N-glycan precursor [Homo sapiens] |
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