A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain

Author:

Leroy Jules G,Sillence David,Wood Tim,Barnes Jarrod,Lebel Robert Roger,Friez Michael J,Stevenson Roger E,Steet Richard,Cathey Sara S

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Cathey SS, Leroy JG, Wood T et al: Phenotype and genotype in mucolipidosis II and III alpha/beta: a study of 61 probands. J Med Genet 2010; 478–488.

2. Kobayashi H, Takahashi-Fujigasaki J, Takahiro F et al: Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction. Mol Genet Metab 2011; 102: 170–175.

3. Kozlowski K, Lipson A, Carey W : 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; 82: 847–851.

4. David-Vizcarra G, Briody J, Ault J et al: The natural history and osteodystrophy of mucolipidosis II and III. J Paediatr Child Health 2010; 46: 316–322.

5. Thomas GH, Taylor HA, Reynolds LW et al: Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells. Pediatr Res 1973; 7: 751–756.

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