Literature DB >> 1265271

The radiographic features of mannosidosis.

J Spranger, J Gehler, M Cantz.   

Abstract

Skeletal changes seen in 12 patients with mannosidosis included thickened calvaria, ovoid configuration, flattening and hook-shaped deformity of the vertebral bodies, hypoplasia of the inferior portions of the ilia, and mild expansion of the short tubular bones of the hands. The pattern of skeletal changes is that of mild to moderate dysostosis multiplex with considerable intrafamilial variation. The skeletal abnormalities may decrease with age. Correlation of the skeletal abnormalities with clinical and biochemical findings is necessary for a specific diagnosis.

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Year:  1976        PMID: 1265271     DOI: 10.1148/119.2.401

Source DB:  PubMed          Journal:  Radiology        ISSN: 0033-8419            Impact factor:   11.105


  6 in total

1.  The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

Authors:  A A Broomfield; A Chakrapani; J E Wraith
Journal:  J Inherit Metab Dis       Date:  2010-02-18       Impact factor: 4.982

2.  Radiographic features of fucosidosis.

Authors:  F A Lee; G N Donnell; J L Gwinn
Journal:  Pediatr Radiol       Date:  1977

3.  MR findings in mannosidosis.

Authors:  J L Dietemann; M M Filippi de la Palavesa; C Tranchant; B Kastler
Journal:  Neuroradiology       Date:  1990       Impact factor: 2.804

4.  Destructive joint disease in alpha-mannosidosis. A case report and review of the literature.

Authors:  A H Gerards; W P C A Winia; J Westerga; B A C Dijkmans; R M van Soesbergen
Journal:  Clin Rheumatol       Date:  2003-11-13       Impact factor: 2.980

5.  Spectrum of mutations in alpha-mannosidosis.

Authors:  T Berg; H M Riise; G M Hansen; D Malm; L Tranebjaerg; O K Tollersrud; O Nilssen
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

Review 6.  Bone health in patients with inborn errors of metabolism.

Authors:  M Langeveld; C E M Hollak
Journal:  Rev Endocr Metab Disord       Date:  2018-03       Impact factor: 6.514

  6 in total

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