Case Reports
Mild I-cell disease, or severe pseudo-Hurler polydystrophy in three siblings: further evidence for intermediate forms of mucolipidosis II and III. Radiological features
Affiliations
- PMID: 1788443
Item in Clipboard
Case Reports
Mild I-cell disease, or severe pseudo-Hurler polydystrophy in three siblings: further evidence for intermediate forms of mucolipidosis II and III. Radiological features
Radiol Med.
1991 Dec.
No abstract available
Similar articles
-
Mucolipidosis III (pseudo-Hurler polydystrophy): report of case.J Am Osteopath Assoc. 1978 Sep;78(1):83-5. J Am Osteopath Assoc. 1978. PMID: 701114 No abstract available.
-
Study of the bone pathology in early mucolipidosis II (I-cell disease).Eur J Pediatr. 1989 Apr;148(6):553-7. doi: 10.1007/BF00441557. Eur J Pediatr. 1989. PMID: 2744018
-
[Radiological case of the month. Type II mucolipidosis with neonatal disclosure].Arch Fr Pediatr. 1985 Aug-Sep;42(7):539-40. Arch Fr Pediatr. 1985. PMID: 4083973 French. No abstract available.
-
[I-cell disease (mucolipidosis II or sialidosis].Minerva Pediatr. 1978 Jun 15;30(11):865-84. Minerva Pediatr. 1978. PMID: 353485 Review. Italian. No abstract available.
-
Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?Pediatr Radiol. 2003 Mar;33(3):153-61. doi: 10.1007/s00247-002-0855-8. Epub 2002 Dec 20. Pediatr Radiol. 2003. PMID: 12612812 Review.
Cited by
-
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.Eur J Hum Genet. 2014 May;22(5):594-601. doi: 10.1038/ejhg.2013.207. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045841 Free PMC article.
-
The natural history and osteodystrophy of mucolipidosis types II and III.J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29. J Paediatr Child Health. 2010. PMID: 20367762 Free PMC article.