Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

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P1476

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

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Alfons Macaya

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Ana Felipe

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Angels García-Cazorla

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Belén Pérez

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Bernabé Robles

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Carmen Fons

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Celia Pérez-Cerdá

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Cristina Boix

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Francisco Carratalá

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Jaak Jaeken

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P2860

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

Neurology of inherited glycosylation disorders.

Congenital disorders of glycosylation: a review.

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.

Understanding human glycosylation disorders: biochemistry leads the charge.

Diseases of glycosylation beyond classical congenital disorders of glycosylation.

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Nomograms of cerebellar vermis height and transverse cerebellar diameter in appropriate-for-gestational-age neonates.

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.

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