Molecular and phenotypic variation in patients with severe Hunter syndrome.
about
Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher diseaseMucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapyA phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)Gaucher disease plus.Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy.Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher diseaseA Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS LocusMutation analysis in 57 unrelated patients with MPS II (Hunter's disease)A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.Mouse chromosome engineering for modeling human disease.The mucopolysaccharidoses: a success of molecular medicine.Parent of origin effects.Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome)Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.Identification of Three Additional Genes Contiguous to the Glucocerebrosidase Locus on Chromosome 1q21: Implications for Gaucher Disease
P2860
Q24628433-F9967C86-8B15-4555-8A2A-737145901B51Q24651989-87939B62-7CBF-496B-8355-AE548AB7C553Q28258072-F06F177E-84F7-4908-92AE-1CBB0C7EA851Q33679677-276D72B0-DF02-4822-887E-A8BF62EFCC9FQ33904453-24157F04-1D13-410E-AAF4-912C9BE6DD90Q34341167-AFBD7F61-FDE3-4326-9F9A-634E6C12A716Q34390674-8A7E9543-9706-4582-9DE6-A3C328C07674Q34560216-E2D5DF0E-C628-4141-8C2D-A3C1F8E82B39Q35260756-5BE2E65C-DDCB-407A-AAA9-DDFD88896DFCQ35861337-80510851-22B8-4BC5-87C4-63B927860920Q36528831-F7626583-CF92-44ED-B2ED-37C9100A3434Q37059193-E9747EF8-E915-4128-AB96-56E3E2B2F29BQ37935869-46EB5769-C611-426A-9E62-EF5EE879D73EQ39521540-A7FC89A2-2639-4513-83DC-03F4421B2D1DQ48355069-1FEE4DD5-DCE1-4AF5-8D3F-65A74051BC10Q53439750-7AA8E452-A419-4419-829B-A18B730D9E01Q55054636-D7109B92-39EE-4291-83F2-273E4A0D634FQ55879991-1F5E86FF-393A-43EB-99A9-66D50EE93294
P2860
Molecular and phenotypic variation in patients with severe Hunter syndrome.
description
1997 nî lūn-bûn
@nan
1997 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մարտին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Molecular and phenotypic variation in patients with severe Hunter syndrome.
@ast
Molecular and phenotypic variation in patients with severe Hunter syndrome.
@en
Molecular and phenotypic variation in patients with severe Hunter syndrome.
@nl
type
label
Molecular and phenotypic variation in patients with severe Hunter syndrome.
@ast
Molecular and phenotypic variation in patients with severe Hunter syndrome.
@en
Molecular and phenotypic variation in patients with severe Hunter syndrome.
@nl
prefLabel
Molecular and phenotypic variation in patients with severe Hunter syndrome.
@ast
Molecular and phenotypic variation in patients with severe Hunter syndrome.
@en
Molecular and phenotypic variation in patients with severe Hunter syndrome.
@nl
P2093
P356
P1476
Molecular and phenotypic variation in patients with severe Hunter syndrome.
@en
P2093
Ansari-Lari MA
Bondeson ML
Dugan-Rocha SP
Lagerstedt K
Pettersson U
P304
P356
10.1093/HMG/6.3.479
P577
1997-03-01T00:00:00Z