Use of a Therabite appliance in the management of bilateral mandibular coronoid hyperplasia by Gibbons, A.J, Abulhoul, S

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Germline selection shapes human mitochondrial DNA diversity by Wei, Wei, Tuna, Salih, Keogh, Michael J, Smith, Katherine R, Aitman, Timothy J, Beales, Phil L, Bennett, David L, Gale, Daniel P, Bitner-Glindzicz, Maria A K, Black, Graeme C, Brennan, Paul, Elliott, Perry, Flinter, Frances A, Floto, R Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R, Markus, Hugh S, Morrell, Nicholas W, Newman, William G, Roberts, Irene, Sayer, John A, Smith, Kenneth G C, Taylor, Jenny C, Watkins, Hugh, Webster, Andrew R, Wilkie, Andrew O M, Williamson, Catherine, Ashford, Sofie, Penkett, Christopher J, Stirrups, Kathleen E, Rendon, Augusto, Ouwehand, Willem H, Bradley, John R, Raymond, F Lucy, Caulfield, Mark, Turro, Ernest, Chinnery, Patrick F

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Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy by Broomfield, A., Fletcher, J., Davison, J., Finnegan, N., Fenton, M., Chikermane, A., Beesley, C., Harvey, K., Cullen, E., Stewart, C., Santra, S., Vijay, S., Champion, M., Abulhoul, L., Grunewald, S., Chakrapani, A., Cleary, M. A., Jones, S. A., Vellodi, A.

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The genomic landscape of rare disorders in the Middle East by El Naofal, Maha, Ramaswamy, Sathishkumar, Alsarhan, Ali, Nugud, Ahmed, Sarfraz, Fatima, Janbaz, Hiba, Taylor, Alan, Jain, Ruchi, Halabi, Nour, Yaslam, Sawsan, Alfalasi, Roudha, Shenbagam, Shruti, Rabea, Fatma, Bitzan, Martin, Yavuz, Lemis, Wafadari, Deena, Abulhoul, Hamda, Shankar, Shiva, Al Maazmi, Munira, Rizk, Ruba, Alloub, Zeinab, Elbashir, Haitham, Babiker, Mohamed O E, Chencheri, Nidheesh, AlBanna, Ammar, Sultan, Meshal, El Bitar, Mohamed, Kherani, Safeena, Thalange, Nandu, Alshryda, Sattar, Di Donato, Roberto, Tzivinikos, Christos, Majid, Ibrar, Freeman, Alexandra F, Gonzalez, Corina, Khan, Arif O, Hamdan, Hisham, Abuhammour, Walid, AlAwadhi, Mohamed, AlKhayat, Abdulla, Alsheikh-Ali, Alawi, Abou Tayoun, Ahmad N

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Expanding the phenotype in argininosuccinic aciduria: need for new therapies by Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, Davison, James E.

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Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations by Halabi, Nour, Ramaswamy, Sathishkumar, El Naofal, Maha, Taylor, Alan, Yaslam, Sawsan, Jain, Ruchi, Alfalasi, Roudha, Shenbagam, Shruti, Bitzan, Martin, Yavuz, Lemis, Abulhoul, Hamda, Shankar, Shiva, Janjua, Dalwinder, Jadhav, Devendrasing, Al Maazmi, Munira Mahmoud, Abuhammour, Walid, Alsheikh-Ali, Alawi, Al Awadhi, Mohamed, Al Khayat, Abdulla, Abou Tayoun, Ahmad N

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Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease by Broomfield, Alexander, Sweeney, Mary G., Woodward, Cathy E., Fratter, Carl, Morris, Andrew M., Leonard, James V., Abulhoul, Lara, Grunewald, Stephanie, Clayton, Peter T., Hanna, Michael G., Poulton, Joanna, Rahman, Shamima

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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes by Reid, Emma S, Papandreou, Apostolos, Drury, Suzanne, Boustred, Christopher, Yue, Wyatt W, Wedatilake, Yehani, Beesley, Clare, Jacques, Thomas S, Anderson, Glenn, Abulhoul, Lara, Broomfield, Alex, Cleary, Maureen, Grunewald, Stephanie, Varadkar, Sophia M, Lench, Nick, Rahman, Shamima, Gissen, Paul, Clayton, Peter T, Mills, Philippa B

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Treatment decision making for parents of children with lysosomal disorders in the era of rapidly advancing medical options by Simcox, Angela, Brackett, Noelle, Cleary, Maureen, Abulhoul, Lara, Lavery, Christine

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The impact of bone marrow transplant treatment for mucopolysaccharidosis type IH on family functioning: Social, emotional and financial factors by Brackett, Noelle, Simcox, Angela, Abulhoul, Lara, Cleary, Maureen

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Early predictors of neurological involvement scoring system in mucopolysaccharidosis type 2: Does it help? by Cleary, Maureen, Footitt, Emma, Abulhoul, Lara, Vellodi, Ashok

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Alterations in gait pattern in Hunter disease patients undergoing enzyme replacement therapy as assessed by the GaitRite system: A six year follow up by Batzios, Spyros, Wood, Michelle, Abulhoul, Lara, Cleary, Maureen, Vellodi, Ashok

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P3.15 EEG paroxysms on eye-closure and other findings in children with cytosolic urea cycle disorders by McHugh, J, Abulhoul, L, Boyd, S

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Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI by Heywood, Wendy E, Camuzeaux, Stephane, Doykov, Ivan, Patel, Nina, Preece, Rhian-Lauren, Footitt, Emma, Cleary, Maureen, Clayton, Peter, Grunewald, Stephanie, Abulhoul, Lara, Chakrapani, Anupam, Sebire, Neil J, Hindmarsh, Peter, de Koning, Tom J, Heales, Simon, Burke, Derek, Gissen, Paul, Mills, Kevin

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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase by Ferdinandusse, Sacha, Waterham, Hans R, Heales, Simon J R, Brown, Garry K, Hargreaves, Iain P, Taanman, Jan-Willem, Gunny, Roxana, Abulhoul, Lara, Wanders, Ronald J A, Clayton, Peter T, Leonard, James V, Rahman, Shamima

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Swallow prognosis and follow up protocol in infantile Pompe disease by Swift, Gyani, Cleary, Maureen, Lozano, Sonia, Ryan, Martina, Grunewald, Stephanie, Abulhoul, Lara, Footitt, Emma, Davison, James

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Do children with MPS IIIA present earlier in life than those with MPS IIIB? by Broomfield, Alexander A., Finnegan, Niamh, Abulhoul, Lara, Cleary, Maureen

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Whole-genome sequencing of patients with rare diseases in a national health system by Turro, Ernest, Astle, William, Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver, Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri, Aitman, Timothy, Bennett, David, Calleja, Paul, Carss, Keren, Caulfield, Mark, Chinnery, Patrick, Dixon, Peter, Gale, Daniel, James, Roger, Koziell, Ania, Laffan, Michael, Levine, Adam, Maher, Eamonn, Markus, Hugh, Morales, Joannella, Morrell, Nicholas, Mumford, Andrew, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi, Saleem, Moin, Smith, Kenneth, Stark, Hannah, Tan, Rhea, Themistocleous, Andreas, Thrasher, Adrian, Watkins, Hugh, Webster, Andrew, Wilkins, Martin, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David, Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen, Beales, Phil, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria, Black, Graeme, Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan

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Whole-genome sequencing of patients with rare diseases in a national health system by Turro, Ernest, Astle, William, Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver, Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri, Aitman, Timothy, Bennett, David, Calleja, Paul, Carss, Keren, Caulfield, Mark, Chinnery, Patrick, Dixon, Peter, Gale, Daniel, James, Roger, Koziell, Ania, Laffan, Michael, Levine, Adam, Maher, Eamonn, Markus, Hugh, Morales, Joannella, Morrell, Nicholas, Mumford, Andrew, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi, Saleem, Moin, Smith, Kenneth, Stark, Hannah, Tan, Rhea, Themistocleous, Andreas, Thrasher, Adrian, Watkins, Hugh, Webster, Andrew, Wilkins, Martin, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David, Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen, Beales, Phil, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria, Black, Graeme, Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan

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Hematopoietic cell transplant in mucopolysaccharidosis type I: Single center review of age of diagnosis and time to transplant by Sivananthanan, Siyamini, Davison, James E., Cleary, Maureen A., Abulhoul, Lara H.

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