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Browsing by UP Author "Hendriksz, Christian J."
Now showing items 1-20 of 32
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Bruce, Iain A.; Ezgu, Fatih S.; Kampmann, Christoph; Kenis, Vladimir; Mackenzie, William; Stevens, Bob; Walker, Robert; Hendriksz, Christian J. (BioMed Central, 2022-03)BACKGROUND : Patients are the most important stakeholders in the care of any disease and have an educational need to learn about their condition and the treatment they should receive. Considering this need for patient-focused ...
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Ayuna, Ahmed; Stepien, Karolina M.; Hendriksz, Christian J.; Balerdi, Matthew; Garg, Anupam; Woolfson, Peter (Elsevier, 2020-06)Patients with Mucopolysaccharidosis (MPS) have an increased risk of cardiovascular complications, conduction tissue abnormalities and arrhythmia; all rare but underestimated. It has been reported that conduction system ...
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Solanki, Guirish A.; Sun, Peter P.; Martin, Kenneth W.; Hendriksz, Christian J.; Lampe, Christina; Guffon, Nathalie; Hung, Annie; Sisic, Zlatko; Shediac, Renée; Harmatz, Paul R. (Elsevier (open access), 2016-08)OBJECTIVES : To gain insight into the frequency, age of onset, and management of cervical cord compression in mucopolysaccharidosis VI (MPS VI). METHODS : Cervical spine magnetic resonance imaging (MRI) data and/or cervical ...
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Stepien, Karolina M.; Geberhiwot, Tarekegn; Hendriksz, Christian J.; Treacy, Eileen P. (Wiley, 2019-11)Urea cycle disorders (UCD) are a group of rare inherited metabolic conditions of amino acid catabolism caused by an enzyme deficiency within the hepatic ammonia detoxification pathway. The presentation of these disorders ...
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Naoman, Kinza; Hendriksz, Christian J.; Radcliffe, Graham; Roncaroli, Federico; Moreea, Sulleman; Hussain, Afifah; Stepien, Karolina M. (Elsevier, 2020-12)The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency. Clinical features include hyperinsulinaemic hypoglycaemia, protein losing enteropathy, hepatomegaly ...
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Stepien, Karolina M.; Gevorkyan, Anait K.; Hendriksz, Christian J.; Lobzhanidze, Tinatin V.; Perez-Lopez, Jordi; Tol, Govind; Del Toro Riera, Mireia; Vashakmadze, Nato D.; Lampe, Christina (BioMed Central, 2020-05-14)BACKGROUND : Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving ...
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Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E.; Bassett, John K.; Cartwright, Eleanor; Bhaskar, Sanjeev; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew A.M.; Jameson, Elisabeth; Schwahn, Bernd C.; Walter, John H.; Douzgou, Sofia; Murphy, Helen; Hendriksz, Christian J.; Sharma, Reena; Wilcox, Gisela; Crushell, Ellen; Monavari, Ardeshir A.; Martin, Richard; Doolan, Anne; Senniappan, Senthil; Ramsden, Simon C.; Jones, Simon A.; Banka, Siddharth (BMJ Publishing Group, 2017-11)BACKGROUND : Inborn errors of metabolism (IEMs) underlie a substantial proportion of paediatric disease burden but their genetic diagnosis can be challenging using the traditional approaches. METHODS : We designed and ...
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Hendriksz, Christian J.; Vanier, Marie T.; Bauer, Peter; Coll, Maria J.; Burlina, Alberto; Latour, Philippe; Goizet, Cyril; Welford, Richard W.D.; Marquardt, Thorsten; Kolb, Stefan A.; Bauer, Peter (Elsevier, 2016-08)Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2. Diagnosis has often been a difficult task, due ...
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Mengel, Eugen; Pineda, Mercedes; Hendriksz, Christian J.; Walterfang, Mark; Torres, Juan V.; Kolb, Stefan A. (Elsevier, 2017-03)BACKGROUND : Niemann-Pick disease Type C (NP-C) is a genetic lipid storage disorder characterised by progressive neurovisceral symptomatology. Typically, disease progression ismore pronounced in patientswith early onset ...
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Adam, Jacqueline; Malone, Rachel; Lloyd, Sioned; Lee, Jennifer; Hendriksz, Christian J.; Ramaswami, Uma (Elsevier, 2019-09)INTRODUCTION: Alpha-mannosidosis is an ultra-rare lysosomal storage disorder resulting from the deficient activity of lysosomal alpha-mannosidase. Alpha-mannosidosis presents as a highly heterogenous condition with large ...
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Harmatz, P.; Lampe, C.; McGill, J.J.; Parini, R.; Leao-Teles, E.; Valayannopoulos, V.; Cole, T.J.; Matousek, R.; Graham, S.; Guffon, N.; Quartel, A. (Elsevier, 2017-09)Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of ...
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Hendriksz, Christian J. (Taylor and Francis, 2016-11)INTRODUCTION : Morquio A syndrome is a rare, autosomal recessive, lysosomal storage disorder caused bya deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In 2014, the use of recombinant human GALNS, ...
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Harmatz, Paul; Cattaneo, Federica; Ardigo, Diego; Geraci, Silvia; Hennermann, Julia B.; Guffon, Nathalie; Lund, Allan; Hendriksz, Christian J.; Borgwardt, Line (Elsevier, 2018-06)Alpha-mannosidosis is an ultra-rare monogenic disorder resulting from a deficiency in the lysosomal enzyme alpha-mannosidase, with a prevalence estimated to be as low as 1:1,000,000 live births. The resulting accumulation of ...
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Giugliani, R.; Harmatz, P.; Jones, S.A.; Mendelsohn, N.J.; Vellodi, A.; Qiu, Y.; Hendriksz, Christian J.; Vijayaraghavan, S.; Whiteman, D.A.H.; PAno, A. (Elsevier, 2017-09)OBJECTIVES : This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of ...
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Jeyaraj, Rebecca; Bounford, Kirsten McKay; Ruth, Nicola; Lloyd, Carla; MacDonald, Fiona; Hendriksz, Christian J.; Baumann, Ulrich; Gissen, Paul; Kelly, Deirdre (MDPI, 2021-11-21)Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver ...
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Hendriksz, Christian J.; Berger, Kenneth I.; Lampe, Christina; Kircher, Susanne G.; Orchard, Paul J.; Southall, Rebecca; Long, Sarah; Sande, Stephen; Gold, Jeffrey I. (BioMed Central, 2016-08-26)The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders ...
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Guest, Julian F.; Ingram, Andy; Ayoub, Nadia; Hendriksz, Christian J.; Murphy, Elaine; Rahman, Yusof; McKiernan, Patrick; Mundy, Helen; Deegan, Patrick (Public Library of Science, 2018-02-02)OBJECTIVE : To estimate clinical progression and resource utilisation together with the associated costs of managing children and adults with LAL Deficiency, at a tertiary referral centre in the UK. METHODS : A retrospective ...
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Hendriksz, Christian J.; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; De Koning, Tomas J.; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Klünemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta J.; Then Bergh, Florian; Topçu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian E.; Kolb, Stefan A. (Taylor and Francis, 2017-03)BACKGROUND : Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or ...
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Hendriksz, Christian J.; Parini, Rossella; AlSayed, Moeenaldeen D.; Raiman, Julian; Giugliani, Roberto; Mitchell, John J.; Burton, Barbara K.; Guelbert, Norberto; Stewart, Fiona J.; Hughes, Derralynn A.; Matousek, Robert; Hawley, Sara M.; Decker, Celeste; Harmatz, Paul R. (Elsevier, 2018-02)BACKGROUND : Long-term safety and efficacy of elosulfase alfa enzyme replacement therapy (ERT) were assessed in 173 patients with Morquio A syndrome (mucopolysaccharidosis IVA) in a 96-week, open-label, multi-center, phase ...
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Stepien, Karolina M.; Hendriksz, Christian J. (Elsevier, 2017-12)BACKGROUND : Fabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes ...
Now showing items 1-20 of 32