Literature DB >> 1453439

An atypical form of mucolipidosis III.

P Freisinger1, J C Padovani, P Maroteaux.   

Abstract

We report two sibs showing a very mild form of mucolipidosis III with no clinical signs but isolated involvement of the hip and very mild abnormalities of the spine. This indicates that a storage disease, in particular mucolipidosis III, should be considered in any case of isolated bilateral hip dysplasia. The differences from other reported atypical variants of mucolipidosis III are discussed.

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Year:  1992        PMID： 1453439      PMCID： PMC1016184          DOI： 10.1136/jmg.29.11.834

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  [Atypical spondylo-epiphysial dysplasia in 2 brothers].

Authors:  M LAMY; P MAROTEAUX
Journal:  Arch Fr Pediatr       Date:  1957

2.  Roentgen findings in mucolipidosis III (Pseudo-Hurler polydystrophy).

Authors:  R Melhem; J P Dorst; C I Scott; V A McKusick
Journal:  Radiology       Date:  1973-01       Impact factor: 11.105

3.  The genetic mucolipidoses. Diagnosis and differential diagnosis.

Authors:  J W Spranger; H R Wiedemann
Journal:  Humangenetik       Date:  1970

4.  [Hurler's pseudo-polydystrophy].

Authors:  P Maroteaux; M Lamy
Journal:  Presse Med       Date:  1966-12-25       Impact factor: 1.228

5.  Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III.

Authors:  L E Little; O T Mueller; N K Honey; T B Shows; A L Miller
Journal:  J Biol Chem       Date:  1986-01-15       Impact factor: 5.157

6.  Phosphorylation of lysosomal enzymes in fibroblasts. Marked deficiency of N-acetylglucosamine-1-phosphotransferase in fibroblasts of patients with mucolipidosis III.

Authors:  A Waheed; A Hasilik; M Cantz; K von Figura
Journal:  Hoppe Seylers Z Physiol Chem       Date:  1982-02

7.  Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.

Authors:  T E Kelly; G H Thomas; H A Taylor; V A McKusick; W S Sly; J H Glaser; M Robinow; L Luzzatti; C Espiritu; M Feingold; M J Bull; E M Ashenhurst; E J Ives
Journal:  Johns Hopkins Med J       Date:  1975-10

8.  Mucolipidosis III is genetically heterogeneous.

Authors:  N K Honey; O T Mueller; L E Little; A L Miller; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1982-12       Impact factor: 11.205

9.  Lysosomal enzyme targeting. N-Acetylglucosaminylphosphotransferase selectively phosphorylates native lysosomal enzymes.

Authors:  M L Reitman; S Kornfeld
Journal:  J Biol Chem       Date:  1981-12-10       Impact factor: 5.157
  9 in total
  2 in total

Review 1.  Molecular analysis of the GlcNac-1-phosphotransferase.

Authors:  T Braulke; S Pohl; S Storch
Journal:  J Inherit Metab Dis       Date:  2008-04-15       Impact factor: 4.982

2.  Mucolipidosis type III, a series of adult patients.

Authors:  Esmee Oussoren; David van Eerd; Elaine Murphy; Robin Lachmann; Jan C van der Meijden; Lies H Hoefsloot; Rob Verdijk; George J G Ruijter; Mario Maas; Carla E M Hollak; Janneke G Langendonk; Ans T van der Ploeg; Mirjam Langeveld
Journal:  J Inherit Metab Dis       Date:  2018-04-27       Impact factor: 4.982
  2 in total

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