Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations
Puente-Ruiz, Nuria, Ellis, Ian, Bregu, Marsel, Chen, Cliff, Church, Heather J., Tylee, Karen L., Gladston, Shalini, Hackett, Richard, Oldham, Andrew, Virk, Surinder, Hendriksz, Christian, Morris, Andrew A.M., Jones, Simon A., Stepien, Karolina M.
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
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Potential benefits of Fitbit device in managing a patient with mucopolysaccharidosis
Oldham, Andrew, Stepien, Karolina M., Hendriksz, Christian J.
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Joint contractures and clonus as main indications for botulinum injections in adult patients with mucopolysaccharidoses: One centre experience
Oldham, Andrew, Walton, Krystyna, Gee, Edward, Hendriksz, Christian J., Stepien, Karolina M.
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Journal Article
Long-term clinical and biochemical outcomes in adult mucopolysaccharidosis type I Hurler Scheie and Scheie patients
Stepien, Karolina M., Lorenzo, Jorge Menendez, Jones, Mairead, Gorton, Janet, Sharma, Reena, Oldham, Andrew J., Jovanovic, Ana, Gadepalli, Chaitanya, Jones, Simon
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Pulmonary function in paediatrically diagnosed MPS I
Broomfield, Alexander, Hensman, Pauline, Mercer, Jean, Ghosh, Arunabha, Oldham, Andrew, Stepien, Karolina, Wilkinson, Stuart, Jones, Simon
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Long-term ambulatory outcomes in MPS I (Hurler syndrome) patients after HSCT
Broomfield, Alexander, Hensman, Pauline, Ghosh, Arunabha, Morakis, Emmanouil, Mercer, Jean, Oldham, Andrew, Stepien, Karolina, Jones, Simon A.
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Long-term outcomes in adult patients affected with fucosidosis: Psychosis as a new complication
Stepien, Karolina M., Chen, Cliff, Hackett, Richard, Oldham, Andrew, Ayuna, Ahmed, Jones, Simon A., Church, Heather J., Tylee, Karen L., Hendriksz, Christian J.
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Journal Article
MPS VII - extending the classical phenotype
Oldham, Andrew, Oxbarrow, Neil J., Wolfson, Peter, Jenkins, Petra, Gadepalli, Chaitanya, Ashworth, Jane, Saxena, Ankur, Rothera, Michael, Hendriksz, Christian J., Tol, Govind, Jovanovic, Ana
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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