Literature DB >> 9547892

Urine analysis in the diagnosis of mucopolysaccharide disorders.

J E Stone1.   

Abstract

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Year:  1998        PMID： 9547892     DOI： 10.1177/000456329803500204

Source DB:  PubMed          Journal:  Ann Clin Biochem        ISSN： 0004-5632            Impact factor:   2.057


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  12 in total

1.  Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.

Authors:  Nancy J Mendelsohn; Timothy Wood; Rebecca A Olson; Renee Temme; Susan Hale; Haoyue Zhang; Lisa Read; Klane K White
Journal:  JIMD Rep       Date:  2013-05-09

Review 2.  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

3.  Mental retardation in mucopolysaccharidoses correlates with high molecular weight urinary heparan sulphate derived glucosamine.

Authors:  G V Coppa; O Gabrielli; L Zampini; F Maccari; V Mantovani; T Galeazzi; L Santoro; L Padella; R L Marchesiello; F Galeotti; N Volpi
Journal:  Metab Brain Dis       Date:  2015-05-29       Impact factor: 3.584

Review 4.  Advances in glycosaminoglycan detection.

Authors:  Shaukat A Khan; Robert W Mason; Hironori Kobayashi; Seiji Yamaguchi; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2020-03-27       Impact factor: 4.797

Review 5.  Sanfilippo syndrome: a mini-review.

Authors:  M J Valstar; G J G Ruijter; O P van Diggelen; B J Poorthuis; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

6.  Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.

Authors:  Encarna Guillén-Navarro; María Rosario Domingo-Jiménez; Carlos Alcalde-Martín; Ramón Cancho-Candela; María Luz Couce; Enrique Galán-Gómez; Olga Alonso-Luengo
Journal:  Orphanet J Rare Dis       Date:  2013-06-25       Impact factor: 4.123

7.  Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.

Authors:  Latifa Chkioua; Hela Boudabous; Ibtissem Jaballi; Oussama Grissa; Hadhami Ben Turkia; Neji Tebib; Sandrine Laradi
Journal:  Diagn Pathol       Date:  2018-05-29       Impact factor: 2.644

8.  The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.

Authors:  L Chkioua; O Grissa; N Leban; M Gribaa; H Boudabous; H Ben Turkia; S Ferchichi; N Tebib; S Laradi
Journal:  BMC Med Genet       Date:  2020-05-24       Impact factor: 2.103

9.  Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.

Authors:  Latifa Chkioua; Souhir Khedhiri; Hind Hafsi; Oussama Grissa; Hadhami Ben Turkia; Abdelhedi Miled; Sandrine Laradi; Roseline Froissart; Najat Alif
Journal:  Diagn Pathol       Date:  2016-06-17       Impact factor: 2.644

Review 10.  Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.

Authors:  Ryuichi Mashima; Torayuki Okuyama; Mari Ohira
Journal:  Int J Mol Sci       Date:  2020-04-14       Impact factor: 5.923
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