Literature DB >> 25134498

Hurler syndrome: orofacial, dental, and skeletal findings of a case.

Arpita Rai Thakur1, Venkatesh G Naikmasur, Atul Sattur.   

Abstract

Hurler syndrome is a disorder of mucopolysaccharide metabolism caused due to inherited deficiencies of lysosomal α-l-iduronidase activity. We present a case of a 15-year-old male patient presenting with clinical and laboratory characteristics of the syndrome. A rare combination of skeletal, ophthalmologic, and dental findings was observed in this patient. Mucopolysaccharides excretion spot test of urine was positive and an assay of alpha-l-iduronidase enzyme was deficient, confirming the clinical diagnosis of Hurler syndrome.

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Year:  2014        PMID: 25134498     DOI: 10.1007/s00256-014-1982-7

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN: 0364-2348            Impact factor:   2.199


  17 in total

1.  Hurler syndrome: a case report.

Authors:  S Thomas; S Tandon
Journal:  J Clin Pediatr Dent       Date:  2000       Impact factor: 1.065

2.  Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation.

Authors:  Jason S Weisstein; Eliana Delgado; Lynne S Steinbach; Kim Hart; Seymour Packman
Journal:  J Pediatr Orthop       Date:  2004 Jan-Feb       Impact factor: 2.324

Review 3.  Computed tomography and magnetic resonance imaging of the brain in Hurler's disease.

Authors:  A K Afifi; Y Sato; M H Waziri; W E Bell
Journal:  J Child Neurol       Date:  1990-07       Impact factor: 1.987

4.  Hurler's syndrome: dental findings in a case treated with bone marrow transplantation in infancy.

Authors:  E J Hingston; M L Hunter; B Hunter; N Drage
Journal:  Int J Paediatr Dent       Date:  2006-05       Impact factor: 3.455

5.  Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).

Authors:  O Keith; C Scully; G M Weidmann
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1990-07

6.  Spinal problems in mucopolysaccharidosis I (Hurler syndrome).

Authors:  V Tandon; J B Williamson; R A Cowie; J E Wraith
Journal:  J Bone Joint Surg Br       Date:  1996-11

7.  Glycosaminoglycan-mediated loss of cathepsin K collagenolytic activity in MPS I contributes to osteoclast and growth plate abnormalities.

Authors:  Susan Wilson; Saadat Hashamiyan; Lorne Clarke; Paul Saftig; John Mort; Valeria M Dejica; Dieter Brömme
Journal:  Am J Pathol       Date:  2009-10-15       Impact factor: 4.307

8.  [Hurler syndrome: early diagnosis and treatment].

Authors:  S Leroux; J-B Muller; E Boutaric; A Busnel; F Lemouel; M Andro-Garçon; B Neven; V Valayannopoulos; C Vinceslas
Journal:  Arch Pediatr       Date:  2014-03-31       Impact factor: 1.180

9.  Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

Authors:  Kristin D'Aco; Lisa Underhill; Lakshmi Rangachari; Pamela Arn; Gerald F Cox; Roberto Giugliani; Torayuki Okuyama; Frits Wijburg; Paige Kaplan
Journal:  Eur J Pediatr       Date:  2012-01-11       Impact factor: 3.183

Review 10.  Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review.

Authors:  Marleen H van der Linden; Moyo C Kruyt; Ralph J B Sakkers; Tom J de Koning; F Cumhur Oner; René M Castelein
Journal:  J Inherit Metab Dis       Date:  2011-03-17       Impact factor: 4.982

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