Clinical utility gene card for: Phosphomannomutase 2 deficiency.

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Clinical utility gene card for: Phosphomannomutase 2 deficiency.

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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Clinical utility gene card for: Phosphomannomutase 2 deficiency.

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Clinical utility gene card for: Phosphomannomutase 2 deficiency.

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Item

label

Clinical utility gene card for: Phosphomannomutase 2 deficiency.

@en

Clinical utility gene card for: Phosphomannomutase 2 deficiency.

@nl

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Clinical utility gene card for: Phosphomannomutase 2 deficiency.

@en

Clinical utility gene card for: Phosphomannomutase 2 deficiency.

@nl

P1476

Clinical utility gene card for: Phosphomannomutase 2 deficiency.

@en

P2093

Dirk Lefeber

http://www.w3.org/2001/XMLSchema#string

Jaak Jaeken

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P2860

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations

Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.

P2888

ejhg.2013.298

P31

scholarly article

P356

10.1038/EJHG.2013.298

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Gert Matthijs

P577

2014-01-15T00:00:00Z

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P6179

1012723432

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P698

24424124

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P932

4350603

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