about
Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disordersCan psychiatric childhood disorders be due to inborn errors of metabolism?Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in α-mannosidosis.A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Mutations in four glycosyl hydrolases reveal a highly coordinated pathway for rhodopsin biosynthesis and N-glycan trimming in Drosophila melanogaster.Impaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis.Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) PopulationDiagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfallsChronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis miceNatural history of alpha mannosidosis a longitudinal studyLarge animal models of neurological disorders for gene therapy.Developmental and loco-like effects of a swainsonine-induced inhibition of α-mannosidase in the honey bee, Apis melliferaAlpha-mannosidosis: a report of 2 siblings and review of the literature.Neuronopathic lysosomal storage diseases: clinical and pathologic findings.Insight into microbial mannosidases: a review.Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-MannosidosisEnzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study.Human α-mannosidase produced in transgenic tobacco plants is processed in human α-mannosidosis cell lines.MicroRNA signature associated with osteogenic lineage commitment.Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis.Clinical utility gene card for: α-mannosidosis.Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis.Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients.Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.Mechanistic Insight into the Binding of Multivalent Pyrrolidines to α-Mannosidases.Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis.Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.A practical approach for O-linked mannose removal: the use of recombinant lysosomal mannosidase.Alpha-Mannosidosis: Therapeutic Strategies.Retinal and optic nerve degeneration in α-mannosidosis.
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Alpha-mannosidosis
@ast
Alpha-mannosidosis
@en
Alpha-mannosidosis
@en-gb
Alpha-mannosidosis
@nl
type
label
Alpha-mannosidosis
@ast
Alpha-mannosidosis
@en
Alpha-mannosidosis
@en-gb
Alpha-mannosidosis
@nl
prefLabel
Alpha-mannosidosis
@ast
Alpha-mannosidosis
@en
Alpha-mannosidosis
@en-gb
Alpha-mannosidosis
@nl
P2860
P921
P356
P1476
Alpha-mannosidosis
@en
P2093
Øivind Nilssen
P2860
P2888
P356
10.1186/1750-1172-3-21
P407
P5008
P577
2008-07-23T00:00:00Z
P5875
P6179
1021267787