Ontology highlight
ABSTRACT:
SUBMITTER: Agrawal U
PROVIDER: S-EPMC3477452 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Agrawal Udit U Meshram Ajay A Vagha Jayant J Swarnkar Kirti K Palandurkar Kamlesh K
Indian journal of clinical biochemistry : IJCB 20120503 4
Mucopolysaccharidoses (MPS) are a group of genetic diseases and its diagnosis is a challenging task due to multiple differential diagnosis. We had combined clinical findings, radiological and ophthalmological features. Biochemical test for urine glycosaminoglycans (GAG) was done for confirmation of diagnosis in the patient. The case of Sanfilippo disease was characterized by slowly progressive, severe CNS involvement with mild somatic disease. Radiological features were suggestive of Sanfilippo ...[more]