Literature DB >> 2953073

Case report 416: Spondylometaphyseal chondroplasia with an unclassified mucopolysaccharide in the urine ("generalized enchondromatosis with mucopolysacchariduria").

T Lerman-Sagie, M Grunebaum, M Mimouni.   

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Year:  1987        PMID: 2953073     DOI: 10.1007/bf00367770

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


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  5 in total

1.  Dyschondroplasia; synonyms, Ollier's disease, multiple enchondromata.

Authors:  H A T FAIRBANK
Journal:  J Bone Joint Surg Br       Date:  1948-11

2.  Metaphyseal chondrodysplasia calcificans. A report on two cases.

Authors:  S van Creveld; K Kozlowski; K Pietron; A van der Valk
Journal:  Br J Radiol       Date:  1971-10       Impact factor: 3.039

3.  [Multiple chondroma affecting the spine: spondylo-enchondroplasia and other forms (author's transl)].

Authors:  J Sauvegrain; P Maroteaux; J Ribier; L Garel; L Tato; P Rochiccioli; J de Magalhaes; B Duhamel
Journal:  J Radiol       Date:  1980 Aug-Sep

4.  Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.

Authors:  S Schorr; C Legum; M Ochshorn
Journal:  Radiology       Date:  1976-01       Impact factor: 11.105

5.  Two peculiar types of enchondromatosis.

Authors:  J Spranger; H Kemperdieck; H Bakowski; J M Opitz
Journal:  Pediatr Radiol       Date:  1978-12-04
  5 in total
  3 in total

1.  Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1.

Authors:  Nilay Güneş; Gözde Yeşil; Kubilay Beng; Sinan Kahraman; Beyhan Tüysüz
Journal:  Mol Syndromol       Date:  2018-04-24

2.  Dysspondyloenchondromatosis in the newborn. Report of four cases.

Authors:  K Kozlowski; K Brostrom; J Kennedy; H Lange; L Morris
Journal:  Pediatr Radiol       Date:  1994

3.  Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?

Authors:  T Nakane; T Tando; K Aoyagi; K Hatakeyama; G Nishimura; I P J Coucke; G Mortier; K Sugita
Journal:  Mol Syndromol       Date:  2011-10-18
  3 in total

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