Morquio syndrome: Clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB
Copyright policy )Morquio syndrome: Clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB
Genetic heterogeneity of the Morquio syndrome has been known since deficiency of β-galactosidase was detected in some patients in addition to the deficiency of N-acetylgalactosamine-6-sulphate sulphatase in the classical form of Morquio syndrome. The clinical findings of 11 patients with MPS IVA, the classical form, and 2 patients with MPS IV B, a variant form, are described. All of the patients with MPS IV A showed extraskeletal manifestations of their disease. The patients with MPS IV B seem to be less severely affected.
- University of Münster Germany
- Hôpital de la Timone France
- Marseille Public University Hospital System France
- Goethe University Frankfurt Germany
Adult, Male, Bone Diseases, Developmental, Adolescent, Genetic Variation, Infant, Mucopolysaccharidosis IV, Pedigree, Diagnosis, Differential, Child, Preschool, Humans, Female, Child, Connective Tissue Diseases, Growth Disorders
Adult, Male, Bone Diseases, Developmental, Adolescent, Genetic Variation, Infant, Mucopolysaccharidosis IV, Pedigree, Diagnosis, Differential, Child, Preschool, Humans, Female, Child, Connective Tissue Diseases, Growth Disorders
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