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Literature DB >> 132459

A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.

Abstract

The current state of knowledge on the biochemical abnormalities in the mucopolysaccharidoses is reviewed. Methods for the estimation and identification of glycoasminoglycans excreted in the mucopolysaccharidoses are discussed and a selection of simple and reliable methods of value in a small hospital laboratory have been given in detail in an appendix.

Entities: Chemical

Mesh：

Substances：

Year: 1976 PMID： 132459 PMCID： PMC475987 DOI： 10.1136/jcp.29.2.111

Source DB: PubMed Journal: J Clin Pathol ISSN： 0021-9746 Impact factor: 3.411

76 in total

1. Urinary glycosaminoglycans versus creatinine excretion: a used and abused parameter.

Authors: N Di Ferrante; H S Lipscomb
Journal: Clin Chim Acta Date: 1970-10 Impact factor: 3.786

2. Classification of the mucopolysaccharidoses based on the pattern of mucopolysacchariduria.

Authors: D Kaplan
Journal: Am J Med Date: 1969-11 Impact factor: 4.965

3. Scheie and Hurler syndromes: apparent identity of the biochemical defect.

Authors: U Wiesmann; E F Neufeld
Journal: Science Date: 1970-07-03 Impact factor: 47.728

4. Excretion in the urine of aminoacridine precipitable polyuronides (acid mucopolysaccharides) in patients with rheumatoid arthritis.

Authors: T Bitter; P Siegenthaler; T DePreux; E Martin
Journal: Ann Rheum Dis Date: 1970-07 Impact factor: 19.103

5. [Biochemical differentiation of Hurler's and Hunter's diseases by fracionation of heparitin sulfate].

Authors: P Maroteaux
Journal: Rev Eur Etud Clin Biol Date: 1970-02

6. Biochemical definition of the mucopolysaccharidoses.

Authors: J W Spranger
Journal: Z Kinderheilkd Date: 1970

7. Screening for mucopolysaccharidoses.

Authors: C A Pennock; M G Mott; G F Batstone
Journal: Clin Chim Acta Date: 1970-01 Impact factor: 3.786

Review 8. The nosology of the mucopolysaccharidoses.

Authors: V A McKusick
Journal: Am J Med Date: 1969-11 Impact factor: 4.965

9. The glycosaminoglycans of neonatal rat skin.

Authors: T E Hardingham; C F Phelps
Journal: Biochem J Date: 1970-05 Impact factor: 3.857

Review 10. The structure and metabolism of mucopolysaccharides (glycosaminoglycans) and the problem of the mucopolysaccharidoses.

Authors: H Muir
Journal: Am J Med Date: 1969-11 Impact factor: 4.965

31 in total

1. Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism.

Authors: A C Sewell; J Gehler; J Spranger
Journal: Klin Wochenschr Date: 1979-06-01

2. Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology.

Authors: Thabata Caroline da Rocha Siqueira; Carolina Fischinger Moura de Souza; Paulo Lompa; Mercedes Picarelli; Ilóite Scheibel; Fernanda Bender; Régis Guidobono; Maira Graeff Burin; Roberto Giugliani
Journal: JIMD Rep Date: 2015-08-28

3. Screening method for mucopolysaccharidoses.

Authors: P Lowdon
Journal: J Clin Pathol Date: 1983-03 Impact factor: 3.411

4. GM1 gangliosidosis (type 1) in a cat.

Authors: C G Barker; W F Blakemore; A Dell; A C Palmer; P R Tiller; B G Winchester
Journal: Biochem J Date: 1986-04-01 Impact factor: 3.857

5. Urinary Glycosaminoglycan Estimation as a Routine Clinical Service.

Authors: M B Dave; P K Chawla; A J Dherai; T F Ashavaid
Journal: Indian J Clin Biochem Date: 2014-07-27

6. Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease.

Authors: E Paschke; W Gruber; E Ring; W Sperl
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

Review 7. Glycosaminoglycans detection methods: Applications of mass spectrometry.

Authors: Francyne Kubaski; Harumi Osago; Robert W Mason; Seiji Yamaguchi; Hironori Kobayashi; Mikako Tsuchiya; Tadao Orii; Shunji Tomatsu
Journal: Mol Genet Metab Date: 2016-09-28 Impact factor: 4.797

8. Urinary screening for disorders of heteroglycan metabolism. Results of 10 years experience with a comprehensive system.

Authors: A C Sewell
Journal: Klin Wochenschr Date: 1988-01-15

9. Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives.

Authors: K Mahalingam; S Janani; S Priya; E M Elango; R Maya Sundari
Journal: Indian J Pediatr Date: 2004-01 Impact factor: 1.967

10. A clinical trial of fibroblast transplantation for the treatment of mucopolysaccharidoses.

Authors: D A Gibbs; E Spellacy; R Tompkins; R W Watts; J F Mowbray
Journal: J Inherit Metab Dis Date: 1983 Impact factor: 4.982