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. 2003 Mar;40(3):192–194. doi: 10.1136/jmg.40.3.192
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
C Beesley
1, D Burke
1, M Jackson
1, A Vellodi
1, B Winchester
1, E Young
1
C Beesley
1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. C.Beesley@ich.ucl.ac.uk
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D Burke
1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. C.Beesley@ich.ucl.ac.uk
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M Jackson
1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. C.Beesley@ich.ucl.ac.uk
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A Vellodi
1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. C.Beesley@ich.ucl.ac.uk
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B Winchester
1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. C.Beesley@ich.ucl.ac.uk
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E Young
1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. C.Beesley@ich.ucl.ac.uk
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1Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK. C.Beesley@ich.ucl.ac.uk
PMCID: PMC1735378 PMID: 12624138