The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
about
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)Metabolic manipulation of glycosylation disorders in humans and animal modelsConformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.Insights into complexity of congenital disorders of glycosylation.Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.Neurology of inherited glycosylation disorders.Sialic acids attached to N- and O-glycans within the Nav1.4 D1S5-S6 linker contribute to channel gating.Fibrotic response in fibroblasts from congenital disorders of glycosylation.Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology.Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Macular hypoplasia in congenital disorder of glycosylation type iaPharmacological Chaperoning: A Potential Treatment for PMM2-CDG.Lymphatic edema in congenital disorders of glycosylation.Cardiac involvement in hereditary ataxiasSynaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease modelMouse models for congenital disorders of glycosylation.Human HAD phosphatases: structure, mechanism, and roles in health and disease.Regulation of dolichol-linked glycosylation.Congenital disorders of glycosylation and intellectual disability.A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.Congenital disorders of glycosylation with neonatal presentation.Immunological aspects of congenital disorders of glycosylation (CDG): a review.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.Molecular Characterization of Legionellosis Drug Target Candidate Enzyme Phosphoglucosamine Mutase from Legionella pneumophila (strain Paris): An In Silico Approach.Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylationA nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsExpanding the Spectrum of PMM2-CDG Phenotype.Socio-emotional Problems in Children with CDG.Clinical utility gene card for: Phosphomannomutase 2 deficiency.Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.Molecular cloning and functional analysis of the phosphomannomutase (PMM) gene from Dendrobium officinale and evidence for the involvement of an abiotic stress response during germination.Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
P2860
Q27311626-363A8998-B2D1-4F46-9AEA-E9E082F4E86FQ28749888-84ED2217-B33A-4A97-BC4B-4E1A81D8ACEEQ30607614-B9FC56A7-47B2-4453-A9E2-2CC1C274F7C2Q33592500-B575851C-690E-42EE-92D1-4ABA52CEA879Q33773216-20EB1D5B-1DDB-4280-BC3E-321FA235B86EQ34162709-453B8B0F-4F48-44C8-B023-C9B4676522C4Q34269429-BF2EAF6D-5570-460D-B22F-97AF4C7CA1FBQ34772336-30EA8237-F071-4BB9-A721-AD562169C70FQ35216162-1320E57C-AC85-45E4-90F6-FAC8058C364DQ35596452-10094AFB-AB82-4D57-844A-5C2B44548CFDQ35604388-EF0FDB95-D726-4886-A104-2E316C10925BQ35725275-28E1ABD3-3A2F-4A8D-B7C9-C3AE5F6CE8A9Q35981911-D130E15B-66C4-4667-B5EF-7B737AE53EE4Q35994670-816A579F-0AE4-40A3-95DE-14654A3EB66BQ36172720-9BA870EA-836D-43EC-8515-984DCC315CECQ36433425-4D5DF44A-3E34-46B9-B84F-432396E5C17DQ36908105-2883DADE-3342-4F8E-A52D-CF91D1E22120Q36967502-D75B15FB-48FF-4BC8-A1F1-B5C7506FF2FDQ37846554-8B815530-0476-458F-B228-9EAF8A65B844Q38011246-54396798-6FB1-4EFB-94BF-00C9D3CFE9F5Q38020336-7A7A25BD-7DCB-404F-AEFC-06259A653CB6Q38116810-5051D133-6B48-4594-9294-ADE627890FA9Q38290461-98711A75-037F-4B0C-882A-48A42FC9FAB1Q38839522-5C9C790D-62B3-4357-91CE-43562A3B7146Q38890624-4A7BE91F-FBF3-43BB-9C59-66F4B206FA12Q39097165-B79D04F5-BD67-4294-BCA7-98B65A309DD7Q39463521-CB8169C6-7183-4F83-BBAE-D6B8C43F0C3FQ40168426-CE667630-1C54-4C12-90E3-C39D7826DD8DQ40770331-8FD64F2D-2950-47C6-B99C-F981FE76996BQ41874177-92EAF8B8-0247-48FC-A08E-BAE7F8CA07D7Q41929157-F2011540-F87C-4971-9D97-3ED44BD3FA86Q42367639-1285E6DE-0F8A-4AA3-8D6F-95E691D5B420Q42368236-94B8030F-ADC6-42E0-864A-C8CB61411B7FQ42574781-7A4758AC-BDC5-483D-94DF-4F095326D804Q43177347-6C3D9587-4C14-4C29-AF41-21738614249DQ48829716-28D073F7-5D95-404F-BA9C-A635D8F0764CQ50211745-FD494F87-D22C-47F2-90F4-4E2F327A005EQ50469011-132BC2F5-FBA4-4191-A706-D54690D06E00Q55031960-BB763304-52D9-493D-9F58-7B9E93E7F562Q55441218-2FDDA02C-AC4E-4A63-B033-C087B75D835D
P2860
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 14 January 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
@en
The clinical spectrum of phosphomannomutase 2 deficiency
@nl
type
label
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
@en
The clinical spectrum of phosphomannomutase 2 deficiency
@nl
prefLabel
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
@en
The clinical spectrum of phosphomannomutase 2 deficiency
@nl
P1476
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
@en
P2093
Stephanie Grünewald
P304
P356
10.1016/J.BBADIS.2009.01.003
P407
P577
2009-01-14T00:00:00Z