Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase
about
Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase proteinSulfatases and sulfatase modifying factors: an exclusive and promiscuous relationshipExpression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphataseMucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild casesThe morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase geneMolecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase geneMucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiencyMorquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseMolecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsAssociation of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfateA cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatasesA systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseasesGene expression profiles of lens regeneration and development in Xenopus laevis.Current and emerging treatments and surgical interventions for Morquio A syndrome: a reviewMolecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutationsPolymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease.Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patientsMatching the Diversity of Sulfated Biomolecules: Creation of a Classification Database for Sulfatases Reflecting Their Substrate Specificity.Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.Diagnosing mucopolysaccharidosis IVAReview of clinical presentation and diagnosis of mucopolysaccharidosis IVAMucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.Mucopolysaccharidosis IVA and glycosaminoglycans.Microbial alkyl- and aryl-sulfatases: mechanism, occurrence, screening and stereoselectivities.Epidemiology of mucopolysaccharidoses.Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.Chondroitin sulfate/dermatan sulfate sulfatases from mammals and bacteria.Recognition of arylsulfatase A and B by the UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-phosphotransferase.Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case.The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.Porcine N-acetylgalactosamine 6-sulfatase (GALNS) cDNA sequence and expression in developing teeth.Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.
P2860
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P2860
Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase
description
1991 nî lūn-bûn
@nan
1991 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Morquio disease: isolation, ch ...... actosamine-6-sulfate sulfatase
@ast
Morquio disease: isolation, ch ...... actosamine-6-sulfate sulfatase
@en
Morquio disease: isolation, ch ...... actosamine-6-sulfate sulfatase
@nl
type
label
Morquio disease: isolation, ch ...... actosamine-6-sulfate sulfatase
@ast
Morquio disease: isolation, ch ...... actosamine-6-sulfate sulfatase
@en
Morquio disease: isolation, ch ...... actosamine-6-sulfate sulfatase
@nl
prefLabel
Morquio disease: isolation, ch ...... actosamine-6-sulfate sulfatase
@ast
Morquio disease: isolation, ch ...... actosamine-6-sulfate sulfatase
@en
Morquio disease: isolation, ch ...... actosamine-6-sulfate sulfatase
@nl
P2093
P3181
P1476
Morquio disease: isolation, ch ...... actosamine-6-sulfate sulfatase
@en
P2093
A Yamagishi
K Sukegawa
Y Nakashima
P304
P3181
P356
10.1016/0006-291X(91)91244-7
P407
P577
1991-12-16T00:00:00Z