Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
about
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.Immunological aspects of congenital disorders of glycosylation (CDG): a review.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)CDG Therapies: From Bench to Bedside.Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
P2860
Q36172720-8ED49890-1638-49A8-BEAB-26C63DFBA57AQ38890624-FC0003DF-9D96-4A3E-B2DA-8523383E0D4CQ39097165-5F6A6EE4-3C47-4131-B7A1-EF6D5C7A53F9Q41716945-965B74CC-E7C5-4E2C-9935-8B247FAC10B7Q52558429-62306858-7C0A-4998-A8A5-3B5B6E2E668FQ52690210-08204DB7-3601-4F4D-98D5-053989E55B66Q53401242-6B8BBDD4-EA30-462A-9642-57CD78034F06
P2860
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
@ast
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
@en
type
label
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
@ast
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
@en
prefLabel
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
@ast
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
@en
P2093
P2860
P50
P1476
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
@en
P2093
Alfons Macaya
Ana Felipe
Angels García-Cazorla
Belén Pérez
Bernabé Robles
Carmen Fons
Celia Pérez-Cerdá
Cristina Boix
Francisco Carratalá
Jaak Jaeken
P2860
P2888
P356
10.1186/S13023-015-0358-Y
P577
2015-10-26T00:00:00Z
P6179
1042746389