The lysosomal disease caused by mutant VPS33A
Pavlova, Elena V, Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I, Nikolaeva, Lena E, Bright, Nicholas A, Tylee, Karen L, Church, Heather J, Ballabio, Andrea, Luzio, J Paul, Cox, Timothy M
Published in Human molecular genetics (01.08.2019)
Published in Human molecular genetics (01.08.2019)
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Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy
Wynn, Robert F., MD, Wraith, J. Ed, FRCPCH, Mercer, Jean, O'Meara, Anne, FRCPI, Tylee, Karen, BSc, Thornley, Margaret, Church, Heather J., PhD, Bigger, Brian W., PhD
Published in The Journal of pediatrics (01.04.2009)
Published in The Journal of pediatrics (01.04.2009)
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A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I
Faller, Kiterie M. E., Ridyard, Alison E., Gutierrez‐Quintana, Rodrigo, Rupp, Angie, Kun‐Rodrigues, Celia, Orme, Tatiana, Tylee, Karen L., Church, Heather J., Guerreiro, Rita, Bras, Jose
Published in Journal of veterinary internal medicine (01.09.2020)
Published in Journal of veterinary internal medicine (01.09.2020)
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Diagnosing mucopolysaccharidosis IVA
Wood, Timothy C., Harvey, Katie, Beck, Michael, Burin, Maira Graeff, Chien, Yin-Hsiu, Church, Heather J., D’Almeida, Vânia, van Diggelen, Otto P., Fietz, Michael, Giugliani, Roberto, Harmatz, Paul, Hawley, Sara M., Hwu, Wuh-Liang, Ketteridge, David, Lukacs, Zoltan, Miller, Nicole, Pasquali, Marzia, Schenone, Andrea, Thompson, Jerry N., Tylee, Karen, Yu, Chunli, Hendriksz, Christian J.
Published in Journal of inherited metabolic disease (01.03.2013)
Published in Journal of inherited metabolic disease (01.03.2013)
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Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8 , 20"
Jones, Simon A, Cheillan, David, Chakrapani, Anupam, Church, Heather J, Heales, Simon, Wu, Teresa H Y, Morton, Georgina, Roberts, Patricia, Sluys, Erica F, Burlina, Alberto
Published in International journal of neonatal screening (16.02.2023)
Published in International journal of neonatal screening (16.02.2023)
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Journal Article
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe
Jones, Simon A, Cheillan, David, Chakrapani, Anupam, Church, Heather J, Heales, Simon, Wu, Teresa H Y, Morton, Georgina, Roberts, Patricia, Sluys, Erica F, Burlina, Alberto
Published in International journal of neonatal screening (15.03.2022)
Published in International journal of neonatal screening (15.03.2022)
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Journal Article
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes
Burlina, Alberto, Jones, Simon A, Chakrapani, Anupam, Church, Heather J, Heales, Simon, Wu, Teresa H Y, Morton, Georgina, Roberts, Patricia, Sluys, Erica F, Cheillan, David
Published in International journal of neonatal screening (25.03.2022)
Published in International journal of neonatal screening (25.03.2022)
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Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy
AMEER SAIF, Muhammad, BIGGER, Brian W, BROOKES, Karen E, MERCER, Jean, TYLEE, Karen L, CHURCH, Heather J, BONNEY, Denise K, JONES, Simon, ED WRAITH, J, WYNN, Robert F
Published in Haematologica (Roma) (01.09.2012)
Published in Haematologica (Roma) (01.09.2012)
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Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy
Xu, Maria, Orsborne, Christopher, Eden, James, Wallace, Andrew, Church, Heather J., Tylee, Karen, Deepak, Sasalu, Cassidy, Christopher, Woolfson, Peter, Miller, Christopher, Schmitt, Matthias, Jovanovic, Ana, Newman, William G.
Published in Cardiogenetics (01.03.2021)
Published in Cardiogenetics (01.03.2021)
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Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment
WU, Teresa H.Y., Brown, Heather A., Church, Heather J., Kershaw, Christopher J., Hutton, Rebekah, Egerton, Christine, Cooper, James, Tylee, Karen, Cohen, Rebecca N., Gokhale, David, Ram, Dipak, Morton, Georgina, Henderson, Michael, Bigger, Brian W., Jones, Simon A.
Published in Molecular genetics and metabolism (01.05.2024)
Published in Molecular genetics and metabolism (01.05.2024)
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Journal Article
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide
Bekri, Soumeya, Bley, Annette, Brown, Heather A., Chanson, Charlotte, Church, Heather J., Gelb, Michael H., Hong, Xinying, Janzen, Nils, Kasper, David C., Mechtler, Thomas, Morton, Georgina, Murko, Simona, Oliva, Petra, Tebani, Abdellah, Wu, Teresa H.Y.
Published in Molecular genetics and metabolism (01.05.2024)
Published in Molecular genetics and metabolism (01.05.2024)
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Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A
Pavlova, Elena V., Lev, Dorit, Michelson, Marina, Yosovich, Keren, Michaeli, Hila Gur, Bright, Nicholas A., Manna, Paul T., Dickson, Veronica Kane, Tylee, Karen L., Church, Heather J., Luzio, J. Paul, Cox, Timothy M.
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses
Kubaski, Francyne, Suzuki, Yasuyuki, Orii, Kenji, Giugliani, Roberto, Church, Heather J., Mason, Robert W., Dũng, Vũ Chí, Ngoc, Can Thi Bich, Yamaguchi, Seiji, Kobayashi, Hironori, Girisha, Katta M., Fukao, Toshiyuki, Orii, Tadao, Tomatsu, Shunji
Published in Molecular genetics and metabolism (01.03.2017)
Published in Molecular genetics and metabolism (01.03.2017)
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Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres
Ghosh, Arunabha, Miller, Weston, Orchard, Paul J, Jones, Simon A, Mercer, Jean, Church, Heather J, Tylee, Karen, Lund, Troy, Bigger, Brian W, Tolar, Jakub, Wynn, Robert F
Published in Molecular genetics and metabolism (01.03.2016)
Published in Molecular genetics and metabolism (01.03.2016)
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Journal Article
Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy
Langereis, Eveline J., van Vlies, Naomi, Church, Heather J., Geskus, Ronald B., Hollak, Carla E.M., Jones, Simon A., Kulik, Wim, van Lenthe, Henk, Mercer, Jean, Schreider, Lena, Tylee, Karen L., Wagemans, Tom, Wijburg, Frits A., Bigger, Brian W.
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Journal Article
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases
Jerves Serrano, Teodoro, Gold, Jessica, Cooper, James A, Church, Heather J, Tylee, Karen L, Wu, Hoi Yee, Kim, Sun Young, Stepien, Karolina M
Published in Journal of clinical medicine (02.03.2024)
Published in Journal of clinical medicine (02.03.2024)
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Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome
Pal, Abhijit Ricky, Langereis, Eveline J, Saif, Muhammad A, Mercer, Jean, Church, Heather J, Tylee, Karen L, Wynn, Robert F, Wijburg, Frits A, Jones, Simon A, Bruce, Iain A, Bigger, Brian W
Published in Orphanet journal of rare diseases (10.04.2015)
Published in Orphanet journal of rare diseases (10.04.2015)
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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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Journal Article
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)
Gardner, Chris J., Robinson, Nicola, Meadows, Tim, Wynn, Robert, Will, Andrew, Mercer, Jean, Church, Heather J., Tylee, Karen, Wraith, J. Edmond, Clayton, Peter E.
Published in Journal of inherited metabolic disease (01.04.2011)
Published in Journal of inherited metabolic disease (01.04.2011)
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Journal Article
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease
Stepien, Karolina M., Lum, Su Han, Wraith, J. Edmond, Hendriksz, Christian J., Church, Heather J., Priestman, David, Platt, Frances M., Jones, Simon, Jovanovic, Ana, Wynn, Robert
Published in JIMD Reports, Volume 41 (01.01.2018)
Published in JIMD Reports, Volume 41 (01.01.2018)
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