The mucopolysaccharidoses (a review). (Q35986296)

11 August 2017

The mucopolysaccharidoses (a review). (English)

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11 August 2017

Dorfman A

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11 August 2017

Matalon R

series ordinal

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11 August 2017

language of work or name

English

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publication date

1 February 1976

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Proceedings of the National Academy of Sciences of the United States of America

11 August 2017

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11 August 2017

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11 August 2017

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11 August 2017

630-637

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A Rare Disease in Two Brothers

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HURLER-PFAUNDLER'S DISEASE.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Sickle cell anemia, a molecular disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

L-iduronidase in cultured human fibroblasts and liver

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

The systemic mucopolysaccharidoses.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

The Distribution of Sulfated Uronic Acid and Hexosamine Residues in Heparin and Heparan Sulfate

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Characterization of the factor deficient in the Hunter syndrome by polyacrylamide gel electrophoresis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Structure of the “keratosulfate-like” material in liver from a patient with GM1-gangliosidosis (β-D-galactosidase deficiency)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

The phenyl - and -L-idopyranosiduronic acids and some other aryl glycopyranosiduronic acids.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Mucopolysaccharidosis VI (Maroteaux-Lamy disease). Clinical and biochemical study of a mild variant case

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Corrective factors for inborn errors of mucopolysaccharide metabolism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Classification of the mucopolysaccharidoses based on the pattern of mucopolysacchariduria.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Degradation of mucopolysaccharides by hepatic lysosomes.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Lactosylceramide beta-galactosidase in human sphingolipidoses. Evidence for two genetically distinct enzymes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Gargoylism; a mucopolysaccharidosis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Scheie and Hurler syndromes: apparent identity of the biochemical defect

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

A newly recognized forme fruste of Hurler's disease (gargoylism)

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=335965

Structure of Pig Skin Dermatan Sulfate. 2. Demonstration of Sulfated Iduronic Acid Residues

5 December 2018

1 reference

12 December 2020

Excretion of sulfated mucopolysaccharides in gargoylism (Hurler's syndrome)

1 reference

12 December 2020

Isolation and Identification of Keratosulphate in Urine of Patients Affected by Morquio-Ullrich Disease

1 reference

12 December 2020

Clinical and probable genetic heterogeneity within mucopolysaccharidosis. II. Report of a family with a mild form

1 reference

12 December 2020

The Hunter Syndrome in a 46 XX Girl

1 reference

12 December 2020

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification

1 reference

12 December 2020

The genetic mucopolysaccharidoses

1 reference

12 December 2020

Structural studies on heparitin sulfate of normal and Hurler tissues

1 reference

12 December 2020

Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors

1 reference

12 December 2020

The Hurler corrective factor. Purification and some properties

1 reference

12 December 2020

A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts

1 reference

12 December 2020

Hunter syndrome in girl

1 reference

12 December 2020

Identification of Iduronic Acid as the Major Sulfated Uronic Acid of Heparin

1 reference

12 December 2020

The pathology and chemistry of a case of gargoylism. Appendix. Chemical analysis of tissue polysaccharides

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12 December 2020

Properties of galactosemic cells in culture

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12 December 2020

ULTRASTRUCTURE OF THE HEPATIC CELLS IN HURLER'S DISEASE (GARGOYLISM)

1 reference

12 December 2020

Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome

1 reference

12 December 2020

Variation in the phenotypic expression of beta-glucuronidase deficiency

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12 December 2020

Cleavage of macromolecular heparin by an enzyme from mouse mastocytoma

1 reference

12 December 2020

Absence of hyaluronidase in cultured human skin fibroblasts

1 reference

12 December 2020

An assay for iduronate sulfatase (Hunter corrective factor)

1 reference

12 December 2020

Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase

1 reference

12 December 2020

Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome

1 reference

12 December 2020

Vitamin C-induced increase of dermatan sulfate in cultured Hurler's fibroblasts

1 reference

12 December 2020

Keratosulfate-chondroitin sulfate peptide from normal urine and from urine of patients with Morquio syndrome (mucopolysaccharidosis IV)

1 reference

12 December 2020

Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts

1 reference

12 December 2020

The Sanfilippo A corrective factor. Purification and mode of action

1 reference

12 December 2020

Hunter's syndrome: a deficiency of L-idurono-sulfate sulfatase

1 reference

12 December 2020

Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase

1 reference

12 December 2020

α-L-iduronidase in lysosomal extracts

1 reference

12 December 2020

The hyaluronidase of rat skin

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12 December 2020

Identifiers

DOI

10.1073/PNAS.73.2.630

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11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

813230

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