Clare E Beesley

Clare E Beesley

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Clare E Beesley

Clare E Beesley

Publications by authors named "Clare E Beesley"

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IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

Hum Mutat 2017 11 17;38(11):1555-1568. Epub 2017 Aug 17.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1002/humu.23301DOI Listing
November 2017

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.

Mol Genet Metab 2009 Apr 18;96(4):218-24. Epub 2009 Jan 18.

Biochemistry Research Group, UCL Institute of Child Health, Guilford Street, London, United Kingdom.

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http://dx.doi.org/10.1016/j.ymgme.2008.12.002DOI Listing
April 2009

Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).

Mol Genet Metab 2007 Jan 20;90(1):77-80. Epub 2006 Sep 20.

Biochemistry, Endocrinology and Metabolism Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1016/j.ymgme.2006.07.014DOI Listing
January 2007

Case of X-linked myopathy with excessive autophagy.

J Child Neurol 2006 May;21(5):431-3

University Hospital, Queen's Medical Centre, Nottingham, NG7 2UH, UK.

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May 2006

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Hum Mol Genet 2005 Apr 16;14(8):1077-86. Epub 2005 Mar 16.

Institute of Child Health, University College London with Great Ormond Street Hospital for Children, NHS Trust, London WC1N 1EH, UK.

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http://dx.doi.org/10.1093/hmg/ddi120DOI Listing
April 2005