Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6- sulfate sulfatase deficiency

Molecular Genetics and Metabolism

Volumn 68, Issue 1, 1999, Pages 78-85

  Wang, L ^a   Ou, X ^a   Sebesta, I ^b   Vondrak, K ^b   Krijt, J ^b   Elleder, M ^b   Poupetova, H ^b   Ledvinova, J ^b   Zeman, J ^b   Simmonds, H A ^c   Tischfield, J A ^a   Sahota, A ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHARLES UNIVERSITY   (Czech Republic)

^c GUY S HOSPITAL   (United Kingdom)

Author keywords

2,8 DHA urolithiasis; APRT deficiency; GALNS deficiency; Morquio disease A; Mutation analysis

Indexed keywords

2,8 DIHYDROXYADENINE; ADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; CYTOCHROME B; DNA; KERATAN SULFATE; N ACETYLGALACTOSAMINE 6 SULFATASE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 16Q; ENZYME ACTIVITY; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MORQUIO SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; UROLITHIASIS;

EID: 0032888030     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2893     Document Type: Article

References (29)

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