MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome)

por Solanki, Guirish A., Lo, William B., Hendriksz, Christian J.
Publicado 2013

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders

por Hendriksz, Christian J., Harmatz, Paul, Giugliani, Roberto, Roberts, Jane, Arul, G. Suren
Publicado 2018

Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey

por Adam, Jacqueline, Malone, Rachel, Lloyd, Sioned, Lee, Jennifer, Hendriksz, Christian J., Ramaswami, Uma
Publicado 2019

Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

por Hendriksz, Christian J, Lavery, Christine, Coker, Mahmut, Ucar, Sema Kalkan, Jain, Mohit, Bell, Lisa, Lampe, Christina
Publicado 2014

The use of port-a-caths in adult patients with Lysosomal Storage Disorders receiving Enzyme Replacement Therapy-one centre experience

por McLoughlin, Mairead, Stepien, Karolina M., McNelly, Briony, Thompson, Lorraine, Gorton, Janet, Hendriksz, Christian J.
Publicado 2017

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

por Noman, Kinza, Hendriksz, Christian J., Radcliffe, Graham, Roncaroli, Federico, Moreea, Sulleman, Hussain, Afifah, Stepien, Karolina M.
Publicado 2020

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

por Stepien, Karolina M., Roncaroli, Federico, Turton, Nadia, Hendriksz, Christian J., Roberts, Mark, Heaton, Robert A., Hargreaves, Iain
Publicado 2020

Niemann-Pick disease type C symptomatology: an expert-based clinical description

por Mengel, Eugen, Klünemann, Hans-Hermann, Lourenço, Charles M, Hendriksz, Christian J, Sedel, Frédéric, Walterfang, Mark, Kolb, Stefan A
Publicado 2013

Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria

por Fazio, Timothy Nicholas, Healy, Louise, Heise, Tim, Inwood, Anita, Manolikos, Catherine, Rahman, Yusof, Woerle, Hans-Juergen, Hendriksz, Christian J.
Publicado 2023

Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrath...

por Hogan, Melissa J., Stephens, Kim, Smith, Erin, Jalazo, Elizabeth R., Hendriksz, Christian J., Edwards, Lloyd J., Bjoraker, Kendra J.
Publicado 2020

Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom

por Guest, Julian F., Ingram, Andy, Ayoub, Nadia, Hendriksz, Christian J., Murphy, Elaine, Rahman, Yusof, McKiernan, Patrick, Mundy, Helen, Deegan, Patrick
Publicado 2018

International Guidelines for the Management and Treatment of Morquio A Syndrome

por Hendriksz, Christian J, Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Villarreal, Martha Solano, Savarirayan, Ravi
Publicado 2015

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

por Jeyaraj, Rebecca, Bounford, Kirsten McKay, Ruth, Nicola, Lloyd, Carla, MacDonald, Fiona, Hendriksz, Christian J., Baumann, Ulrich, Gissen, Paul, Kelly, Deirdre
Publicado 2021

Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

por Hendriksz, Christian J., Berger, Kenneth I., Lampe, Christina, Kircher, Susanne G., Orchard, Paul J., Southall, Rebecca, Long, Sarah, Sande, Stephen, Gold, Jeffrey I.
Publicado 2016

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA

por Hendriksz, Christian J., Al-Jawad, Maisoon, Berger, Kenneth I., Hawley, Sara M., Lawrence, Rebecca, Mc Ardle, Ciarán, Summers, C. Gail, Wright, Elizabeth, Braunlin, Elizabeth
Publicado 2012

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

por Hendriksz, Christian J., Muenzer, Joseph, Vanderver, Adeline, Davis, Jonathan M., Burton, Barbara K., Mendelsohn, Nancy J., Wang, Nan, Pan, Luying, Pano, Arian, Barbier, Ann J.
Publicado 2015

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

por Wraith, James E., Sedel, Frédéric, Pineda, Mercèdes, Wijburg, Frits A., Hendriksz, Christian J., Fahey, Michael, Walterfang, Mark, Patterson, Marc C., Chadha-Boreham, Harbajan, Kolb, Stefan A.
Publicado 2013

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

por Stepien, Karolina M., Gevorkyan, Anait K., Hendriksz, Christian J., Lobzhanidze, Tinatin V., Pérez-López, Jordi, Tol, Govind, del Toro Riera, Mireia, Vashakmadze, Nato D., Lampe, Christina
Publicado 2020

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study

por Harmatz, Paul R., Mengel, Eugen, Geberhiwot, Tarekegn, Muschol, Nicole, Hendriksz, Christian J., Burton, Barbara K., Jameson, Elisabeth, Berger, Kenneth I., Jester, Andrea, Treadwell, Marsha, Sisic, Zlatko, Decker, Celeste
Publicado 2016

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11

por McKay, Kirsten E, Bruce, Christopher K, Hartley, Jane L, Knisely, A S, Baumann, Ulrich, Bockisch, Sonja-Stephanie, Sturm, Ekkehard, Hendriksz, Christian J, Kelly, Deidre A, Macdonald, Fiona, Gissen, Paul
Publicado 2013