Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients. (Q30422908)

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13 October 2019

review article

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title

Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients (English)

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13 October 2019

1

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13 October 2019

author name string

Brooks DA

series ordinal

1

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21 June 2017

publication date

1 January 1993

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8487500%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

13 October 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8487500%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

16

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13 October 2019

issue

1

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13 October 2019

page(s)

3-15

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Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies

13 October 2019

cites work

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Biochemical Discrimination of Hurler and Scheie Syndromes

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alpha-L-iduronidase in normal and mucopolysaccharidosis-type-I human skin fibroblasts

21 January 2018

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Human beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassay

21 January 2018

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12 December 2020

Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase

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Regulation of protein export from the endoplasmic reticulum

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The immunochemistry of solid-phase sandwich enzyme-linked immunosorbent assays

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Development and clinical application of sensitive enzyme immunoassay for macromolecular antigens--a review

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Acid phosphatase in rat liver lysosomal membranes: purification and characterization

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Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein

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Human kidney α-l-Iduronidase: Purification and characterization

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Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients

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Quantitation and biosynthesis of beta-glucuronidase cross-reactive material in fibroblasts from patients with mucopolysaccharidosis VII

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Sanfilippo syndrome type D in two adolescent sisters

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Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.

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Evidence for the presence of beta-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique

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Maturation of alpha-L-iduronidase in cultured human fibroblasts

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A specific fluorogenic assay for N-acetylgalactosamine-4-sulphatase activity using immunoadsorption

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High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses

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Partial enzyme deficiencies: residual activities and the development of neurological disorders

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The uptake of enzymes into lysosomes: an overview

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Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity

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Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B

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Biosynthesis and maturation of arylsulfatase B in normal and mutant cultured human fibroblasts.

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Targeting of a lysosomal membrane protein: a tyrosine-containing endocytosis signal in the cytoplasmic tail of lysosomal acid phosphatase is necessary and sufficient for targeting to lysosomes.

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Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase

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Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene

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Human alpha-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and the low uptake (processed) forms

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Studies of lysosomal enzyme biosynthesis in cultured cells

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Human alpha-L-iduronidase. 1. Purification, monoclonal antibody production, native and subunit molecular mass

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12 December 2020

Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts

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12 December 2020

Phosphorylation of human lysosomal arylsulfatase B by cAMP-dependent protein kinase. Different sites of phosphorylation between normal and cancer tissues

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Morquio's disease type A: Absence of material cross reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase

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Human Placenta α-N-Acetylglucosaminidase: Purification, Characterization and Demonstration of Multiple Recognition Forms

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alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype

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12 December 2020

The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment.

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12 December 2020

Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities

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12 December 2020

Immunocytochemical localization of lysosomal acid phosphatase in normal and "I-cell" fibroblasts

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12 December 2020

Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients

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12 December 2020

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

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12 December 2020