(Q37376943)

20 August 2017

Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes (English)

1 reference

20 August 2017

4

J J Hopwood

1 reference

20 August 2017

A C Crawley

1

1 reference

20 August 2017

G Yogalingam

series ordinal

2

1 reference

20 August 2017

V J Muller

series ordinal

3

1 reference

20 August 2017

language of work or name

English

0 references

publication date

1 January 1998

1 reference

Journal of Clinical Investigation

20 August 2017

1 reference

20 August 2017

101

1 reference

20 August 2017

1

1 reference

20 August 2017

109-119

1 reference

Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI.

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

The pathology of the feline model of mucopolysaccharidosis VI.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Specific inhibition of type I and type II collagen fibrillogenesis by the small proteoglycan of tendon

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Localization of the guinea pig eosinophil major basic protein to the core of the granule

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years. (Maroteaux-Lamy syndrome, type B)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Mucopolysaccharide Storage Disease in Three Families of Cats with Arylsulfatase B Deficiency: Leukocyte Studies and Carrier Identification

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Mucopolysaccharidosis in a cat

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

The role of type IX collagen in osteoarthritis and rheumatoid arthritis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Sulfated glycosaminoglycans of guinea pig basophilic leukocytes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Biochemical and functional characterization of proteoglycans isolated from basophils of patients with chronic myelogenous leukemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Ultrastructure of granulocytes in the peripheral blood of the cat.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis. (Maroteaux-Lamy syndrome, mild phenotype).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

New method for quantitative determination of uronic acids

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Morphology of leukocytes from cats affected with alpha-mannosidosis and mucopolysaccharidosis VI (MPS VI).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

Decorin-type I collagen interaction. Presence of separate core protein-binding domains.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508546

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

2 September 2018

1 reference

12 December 2020

Ultrastructural visualization of complex carbohydrates in eosinophilic leukocytes

1 reference

12 December 2020

Maroteaux-Lamy syndrome, mild form--MPS vi b

1 reference

12 December 2020

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

1 reference

12 December 2020

Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease

1 reference

12 December 2020

Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI

1 reference

12 December 2020

Localization of human eosinophil granule major basic protein, eosinophil cationic protein, and eosinophil-derived neurotoxin by immunoelectron microscopy

1 reference

12 December 2020

[Mucopolysaccharidosis 6-A (Maroteaux-Lamy disease): comparison of clinical and pathologico-anatomic findings in a 27-year-old patient]

1 reference

12 December 2020

Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood

1 reference

12 December 2020

Mucopolysaccharidosis VI (Maroteaux-Lamy's disease)

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI935

1 reference

20 August 2017

1 reference

20 August 2017

1 reference