Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)
about
Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).Genetic defects in the human glycome.Congenital disorders of glycosylation: a review.A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase DeficienciesCongenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Ophthalmic findings in an infant with phosphomannomutase deficiency.Human HAD phosphatases: structure, mechanism, and roles in health and disease.Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsA deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.Three families with mild PMM2-CDG and normal cognitive development.The Analysis of Variants in the General Population Reveals That Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of ModifiersGlycosylation and related congenital defects
P2860
Q30607614-38BA0BA5-1063-481D-9590-E7C2B8E789D6Q34027037-D6CB8133-A759-4673-B5DB-CBAFCC9B4ACBQ34044174-71601524-F139-4937-A49B-E5C31A8AA354Q34534962-8D088F90-6E32-404C-ADE8-BCD17057080AQ34985163-68FC31FB-7324-411B-8437-EF6BF8E7BCC6Q35796410-CD98DB5A-6FA2-45EA-9C64-C4BA69486CF1Q36634791-D7080272-04DC-4A3E-BC0C-F9149B8C2B2AQ37708529-CF5748C1-F58F-49F1-880D-8D52E17DF856Q38011246-C32A29C2-551C-44CE-AA16-37AB2E906357Q39778164-93A88D1A-B3F0-4D59-9234-8982854DF288Q42367639-665969FE-6F08-44CC-AC69-8C9E423EEDF1Q46809413-8C30338B-8EA3-4111-A238-72EB4A0767ADQ52098083-B47A6106-9E25-4FC0-BD0B-4B5F4894B361Q57976794-E899FAB5-063E-4D93-B6F9-FB8C9E9E3F54Q75817194-D583B014-D12E-4F17-902A-32177CE17E08
P2860
Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Phosphomannomutase deficiency: ...... Jaeken syndrome (CDGS type Ia)
@ast
Phosphomannomutase deficiency: ...... Jaeken syndrome (CDGS type Ia)
@en
Phosphomannomutase deficiency: ...... Jaeken syndrome (CDGS type Ia)
@nl
type
label
Phosphomannomutase deficiency: ...... Jaeken syndrome (CDGS type Ia)
@ast
Phosphomannomutase deficiency: ...... Jaeken syndrome (CDGS type Ia)
@en
Phosphomannomutase deficiency: ...... Jaeken syndrome (CDGS type Ia)
@nl
prefLabel
Phosphomannomutase deficiency: ...... Jaeken syndrome (CDGS type Ia)
@ast
Phosphomannomutase deficiency: ...... Jaeken syndrome (CDGS type Ia)
@en
Phosphomannomutase deficiency: ...... Jaeken syndrome (CDGS type Ia)
@nl
P2093
P3181
P356
P1476
Phosphomannomutase deficiency: ...... Jaeken syndrome (CDGS type Ia)
@en
P2093
E Schollen
G Matthijs
L Heykants
S Grünewald
P3181
P356
10.1006/MGME.1999.2914
P407
P577
1999-10-01T00:00:00Z