Literature DB >> 15126981

The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.

Joseph Muenzer1.   

Abstract

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Year:  2004        PMID： 15126981     DOI： 10.1016/j.jpeds.2004.01.052

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  64 in total

1.  Hand and foot abnormalities associated with genetic diseases.

Authors:  Henry J Mankin; Jesse Jupiter; Carol Ann Trahan
Journal:  Hand (N Y)       Date:  2010-10-26

2.  [Mucopolysaccharidoses].

Authors:  B Link; E Miebach; T Vetter; D Schmitt; M Beck; A Meurer
Journal:  Orthopade       Date:  2008-01       Impact factor: 1.087

Review 3.  Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity.

Authors:  Louise D Archer; Kia J Langford-Smith; Brian W Bigger; James E Fildes
Journal:  J Inherit Metab Dis       Date:  2013-05-08       Impact factor: 4.982

4.  Sleep-related breathing in children with mucopolysaccharidosis.

Authors:  A Nashed; S Al-Saleh; J Gibbons; I MacLusky; J MacFarlane; A Riekstins; J Clarke; I Narang
Journal:  J Inherit Metab Dis       Date:  2009-06-28       Impact factor: 4.982

5.  Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis.

Authors:  Yoshiko Matsubara; Osamu Miyazaki; Motomichi Kosuga; Torayuki Okuyama; Shunsuke Nosaka
Journal:  Pediatr Radiol       Date:  2017-07-21

6.  A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders.

Authors:  Stefanie Kung; Mark Walters; Peter Claes; Jack Goldblatt; Peter Le Souef; Gareth Baynam
Journal:  JIMD Rep       Date:  2012-06-10

7.  Differential expression of matrix metalloproteinases in the serum of patients with mucopolysaccharidoses.

Authors:  Spyros P Batzios; Dimitrios I Zafeiriou; Euthymia Vargiami; George Karakiulakis; Eleni Papakonstantinou
Journal:  JIMD Rep       Date:  2011-09-22

8.  Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings.

Authors:  F Santamaria; M V Andreucci; G Parenti; M Polverino; D Viggiano; S Montella; A Cesaro; R Ciccarelli; B Capaldo; G Andria
Journal:  J Inherit Metab Dis       Date:  2007-06-14       Impact factor: 4.982

Review 9.  Recent trends in mucopolysaccharidosis research.

Authors:  Hiroshi Kobayashi
Journal:  J Hum Genet       Date:  2018-11-19       Impact factor: 3.172

10.  Receiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families.

Authors:  R Freedman; M Sahhar; L Curnow; J Lee; H Peters
Journal:  J Genet Couns       Date:  2013-03-28       Impact factor: 2.537
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