Mild mental retardation and low levels of urinary heparan sulfate in a patient with the attenuated phenotype of mucopolysaccharidosis type IIIA

Clinical Biochemistry

Volumn 46, Issue 7-8, 2013, Pages 688-690

  Coppa, Giovanni V ^a   Galeotti, Fabio ^b   Zampini, Lucia ^a   Galeazzi, Tiziana ^a   Padella, Lucia ^a   Santoro, Lucia ^a   Maccari, Francesca ^b   Gabrielli, Orazio ^a   Volpi, Nicola ^b  

^a UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Glycosaminoglycans; Heparan sulfate; Mental retardation; Mucopolysaccharidoses; Sanfilippo type A

Indexed keywords

CHONDROITIN ABC LYASE; CHONDROITIN SULFATE; CREATININE; GLUCOSAMINE; HEPARAN SULFATE; N ACETYLGLUCOSAMINE;

ADULT; AGAR GEL ELECTROPHORESIS; ARTICLE; CASE REPORT; CONTROLLED STUDY; DENSITOMETRY; EXON; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFORMED CONSENT; INTELLIGENCE QUOTIENT; LEUKOCYTE; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PSYCHOLOGIC ASSESSMENT; SANFILIPPO SYNDROME; SANFILIPPO SYNDROME TYPE A; SPINAL CORD DORSAL HORN; URINALYSIS; URINE LEVEL; WHITE MATTER; INTELLECTUAL IMPAIRMENT; URINE;

ADULT; FEMALE; HEPARITIN SULFATE; HUMANS; INTELLECTUAL DISABILITY; MUCOPOLYSACCHARIDOSIS III; PHENOTYPE;

EID: 84884755196     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2012.12.014     Document Type: Article

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