Mucopolysaccharidosis (MPS): differential diagnosis

Evidence-based neurology checklist on mucopolysaccharidosis (mps): differential diagnosis: Phenotypic differentials Mucolipidosis Fucosidosis Mannosidosis Gaucher disease Niemann-Pick disease Sialidosis Multiple sulfatase deficiency GM1 gangliosidosis Galactosialidosis Oligosacaridosis Autism…

Phenotypic differentials

  • Mucolipidosis
  • Fucosidosis
  • Mannosidosis
  • Gaucher disease
  • Niemann-Pick disease
  • Sialidosis
  • Multiple sulfatase deficiency
  • GM1 gangliosidosis
  • Galactosialidosis
  • Oligosacaridosis
  • Autism spectrum disorder
  • Muscular dystrophy
  • Fabry disease

Rheumatic differentials

References

  1. Wiśniewska K, Wolski J, Gaffke L, Cyske Z, Pierzynowska K, Węgrzyn G. Misdiagnosis in mucopolysaccharidoses. J Appl Genet 2022; 63:475-495.
  2. Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, et al. Diagnosis of mucopolysaccharidoses. Diagnostics (Basel) 2020; 10:172.

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