Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)
A Meyer, K Kossow, A Gal, C Mühlhausen… - …, 2007 - publications.aap.org
OBJECTIVE. Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are
caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The
onset and severity of the disease are highly variable. The purpose of this study was to
describe the natural course of mucopolysaccharidosis type IIIA in a large cohort of patients.
PATIENTS AND METHODS. The natural course of mucopolysaccharidosis type IIIA was
assessed in 71 patients by using a detailed questionnaire and a 4-point scoring system and …
caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The
onset and severity of the disease are highly variable. The purpose of this study was to
describe the natural course of mucopolysaccharidosis type IIIA in a large cohort of patients.
PATIENTS AND METHODS. The natural course of mucopolysaccharidosis type IIIA was
assessed in 71 patients by using a detailed questionnaire and a 4-point scoring system and …
