A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms.
about
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase geneA multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy.Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairmentExpression of the disease on female carriers of X-linked lysosomal disorders: a brief review.Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series.Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.Mild form of Hunter's syndrome: clinical delineation based on 31 cases.Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).A rare case of mucopolysaccharidosis: hunter syndrome.Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfallsDeep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration.Patient's weight can decide about spending millions on enzyme replacement therapy in MPS IIA longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS IIMucopolysaccharidosis Type II and the G374sp Mutation.Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensusHunter syndrome follow-up after 1 year of enzyme-replacement therapyA rare case of mucopolysaccharidosis: Hunter syndromeMolecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.
P2860
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P2860
A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms.
description
1982 nî lūn-bûn
@nan
1982 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1982 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1982年の論文
@ja
1982年論文
@yue
1982年論文
@zh-hant
1982年論文
@zh-hk
1982年論文
@zh-mo
1982年論文
@zh-tw
1982年论文
@wuu
name
A clinical and genetic study o ...... een the mild and severe forms.
@ast
A clinical and genetic study o ...... een the mild and severe forms.
@en
type
label
A clinical and genetic study o ...... een the mild and severe forms.
@ast
A clinical and genetic study o ...... een the mild and severe forms.
@en
prefLabel
A clinical and genetic study o ...... een the mild and severe forms.
@ast
A clinical and genetic study o ...... een the mild and severe forms.
@en
P2093
P2860
P356
P1476
A clinical and genetic study o ...... ween the mild and severe forms
@en
P2093
I M Archer
P S Harper
R G Newcombe
P2860
P304
P356
10.1136/JMG.19.6.408
P407
P577
1982-12-01T00:00:00Z