Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
about
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activityThree novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.alpha-L-iduronidase therapy for mucopolysaccharidosis type I.Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.
P2860
Q28609226-8F67FF0F-EAF0-47DE-B726-B87E30259825Q35045963-13439A71-80A9-4FA6-BEAB-1409A74A1C06Q35179027-6A31C9D8-76A3-4669-B1A9-0D0EFA8A3333Q39952328-B11B7571-87B7-47CE-83FF-BF1772F53ADFQ43071668-CCAD3E0C-45AC-467A-AB3D-477DB455F54FQ54797177-929C02E1-9AE8-4356-A46D-126A4E4AC68DQ55074307-D063AE5B-DBE1-4838-BB56-E7A33B225F12
P2860
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
description
1997 nî lūn-bûn
@nan
1997 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի նոյեմբերին 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
Mucopolysaccharidosis type I: ...... syndrome in Chinese families.
@ast
Mucopolysaccharidosis type I: ...... syndrome in Chinese families.
@en
type
label
Mucopolysaccharidosis type I: ...... syndrome in Chinese families.
@ast
Mucopolysaccharidosis type I: ...... syndrome in Chinese families.
@en
prefLabel
Mucopolysaccharidosis type I: ...... syndrome in Chinese families.
@ast
Mucopolysaccharidosis type I: ...... syndrome in Chinese families.
@en
P2860
P356
P1476
Mucopolysaccharidosis type I: ...... syndrome in Chinese families.
@en
P2093
P2860
P304
P356
10.1136/JMG.34.11.939
P407
P577
1997-11-01T00:00:00Z