Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases - Wikidata - wikimedia - TriplyDB

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

http://www.wikidata.org/entity/Q24618502

about

Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A Association 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 sulfate Current and emerging treatments and surgical interventions for Morquio A syndrome: a review Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.Mucopolysaccharidosis IVA and glycosaminoglycans.Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition.Progressive acetabular dysplasia in a boy with mucopolysaccharoidosis type IV A (Morquio syndrome): a case report.Porcine N-acetylgalactosamine 6-sulfatase (GALNS) cDNA sequence and expression in developing teeth.GALNS oligomer hydrolyses sulfate from Gal6S in keratan sulfate Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

P2860

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P2860

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

http://www.wikidata.org/entity/Q24618502

description

1992 nî lūn-bûn

@nan

1992 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

1992 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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1992年の論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年論文

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1992年论文

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name

Mucopolysaccharidosis type IVA ...... assical Morquio and mild cases

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Mucopolysaccharidosis type IVA ...... assical Morquio and mild cases

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Mucopolysaccharidosis type IVA ...... assical Morquio and mild cases

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type

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Mucopolysaccharidosis type IVA ...... assical Morquio and mild cases

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Mucopolysaccharidosis type IVA ...... assical Morquio and mild cases

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Mucopolysaccharidosis type IVA ...... assical Morquio and mild cases

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prefLabel

Mucopolysaccharidosis type IVA ...... assical Morquio and mild cases

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Mucopolysaccharidosis type IVA ...... assical Morquio and mild cases

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Mucopolysaccharidosis type IVA ...... assical Morquio and mild cases

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Journal of Clinical Investigation

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Mucopolysaccharidosis type IVA ...... assical Morquio and mild cases

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A Yamagishi

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H Iwata

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K Sukegawa

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M Masue

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S Fukuda

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S Tomatsu

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T Hori

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T Ogawa

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Y Nakashima

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P2860

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics

Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome

Empirical predictions of protein conformation

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

Dideoxy sequencing method using denatured plasmid templates

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.

Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene.

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1049-53

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scholarly article

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10.1172/JCI115919

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3

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90

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329963

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