Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre von Halligan, Rebecca K, Dalton, R Neil, Turner, Charles, Lewis, Katherine A, Mundy, Helen R

Volltext

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation von Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothée, Ondruskova, Nina, Simon, Marleen E H, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T A, van den Bogaart, Geert, van Hijum, Sacha A F T, Rodenburg, Richard, van den Heuvel, Lambertus P, van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, van Scherpenzeel, Monique, Lefeber, Dirk J, Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Helen, Michelakakis, Peter, van Hasselt, Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Katja, Brocke Holmefjord, Jozef, Hertecant, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude

Volltext

Expanding the phenotype in argininosuccinic aciduria: need for new therapies von 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.

Volltext

Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency von Morris, Andrew A.M., Cuenoud, Bernard, Delerive, Philippe, Mundy, Helen, Schwahn, Bernd C.

Volltext

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature von Taylor, Rachel L, Handley, Mark T, Waller, Sarah, Campbell, Christopher, Urquhart, Jill, Meynert, Alison M, Ellingford, Jamie M, Donnelly, Deirdre, Wilcox, Gisela, Lloyd, I Chris, Mundy, Helen, FitzPatrick, David R, Deshpande, Charu, Clayton-Smith, Jill, Black, Graeme C

Volltext

Liver transplantation for propionic acidemia in children von Vara, Roshni, Turner, Charles, Mundy, Helen, Heaton, Nigel D., Rela, Mohammed, Mieli‐Vergani, Giorgina, Champion, Mike, Hadzic, Nedim

Volltext

Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom von Guest, Julian F, Ingram, Andy, Ayoub, Nadia, Hendriksz, Christian J, Murphy, Elaine, Rahman, Yusof, McKiernan, Patrick, Mundy, Helen, Deegan, Patrick

Volltext

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load von Ng, Yi Shiau, Lax, Nichola Z., Maddison, Paul, Alston, Charlotte L., Blakely, Emma L., Hepplewhite, Philippa D., Riordan, Gillian, Meldau, Surita, Chinnery, Patrick F., Pierre, Germaine, Chronopoulou, Efstathia, Du, Ailian, Hughes, Imelda, Morris, Andrew A., Kamakari, Smaragda, Chrousos, Georgia, Rodenburg, Richard J., Saris, Christiaan G.J., Feeney, Catherine, Hardy, Steven A., Sakakibara, Takafumi, Sudo, Akira, Okazaki, Yasushi, Murayama, Kei, Mundy, Helen, Hanna, Michael G., Ohtake, Akira, Schaefer, Andrew M., Champion, Mike P., Turnbull, Doug M., Taylor, Robert W., Pitceathly, Robert D.S., McFarland, Robert, Gorman, Gráinne S.

Volltext

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study von Seker Yilmaz, Berna, Baruteau, Julien, Chakrapani, Anupam, Champion, Michael, Chronopoulou, Efstathia, Claridge, Lee C., Daly, Anne, Davies, Catherine, Davison, James, Dhawan, Anil, Grunewald, Stephanie, Gupte, Girish L., Heaton, Nigel, Lemonde, Hugh, McKiernan, Pat, Mills, Philippa, Morris, Andrew A.M., Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M., Vara, Roshni, Yeo, Mildrid, Gissen, Paul

Volltext

The natural history of glycogen storage disease type Ib in England: A multisite survey von Halligan, Rebecca, White, Fiona J., Schwahn, Bernd, Stepien, Karolina M., Kamarus Jaman, Nazreen, McSweeney, Mel, Kitchen, Steve, Gribben, Joanna, Dawson, Charlotte, Lewis, Katherine, Cregeen, David, Mundy, Helen, Santra, Saikat

Volltext

Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases von Lundy, Claire T., MB, MSc, Jungbluth, Heinz, MD, PhD, Pohl, Keith R.E., MB, BSc, Siddiqui, Ata, MD, Marinaki, Anthony M., PhD, Mundy, Helen, MB, BSc, Champion, Michael P., MB, BSc

Volltext

Liver histology in children with glycogen storage disorders type VI and IX von Degrassi, Irene, Deheragoda, Maesha, Creegen, David, Mundy, Helen, Mustafa, Ahlam, Vara, Roshni, Hadzic, Nedim

Volltext

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire von Grünert, Sarah C., Derks, Terry G.J., Adrian, Katarina, Al-Thihli, Khalid, Ballhausen, Diana, Bidiuk, Joanna, Bordugo, Andrea, Boyer, Monica, Bratkovic, Drago, Brunner-Krainz, Michaela, Burlina, Alberto, Chakrapani, Anupam, Corpeleijn, Willemijn, Cozens, Alison, Dawson, Charlotte, Dhamko, Helena, Milosevic, Maja Djordjevic, Eiroa, Hernan, Finezilber, Yael, Moura de Souza, Carolina Fischinger, Garcia-Jiménez, Maria Concepción, Gasperini, Serena, Haas, Dorothea, Häberle, Johannes, Halligan, Rebecca, Fung, Law Hiu, Hörbe-Blindt, Alexandra, Horka, Laura Maria, Huemer, Martina, Uçar, Sema Kalkan, Kecman, Bozica, Kilavuz, Sebile, Kriván, Gergely, Lindner, Martin, Lüsebrink, Natalia, Makrilakis, Konstantinos, Mei-Kwun Kwok, Anne, Maier, Esther M., Maiorana, Arianna, McCandless, Shawn E., Mitchell, John James, Mizumoto, Hiroshi, Mundy, Helen, Ochoa, Carlos, Pierce, Kathryn, Fraile, Pilar Quijada, Regier, Debra, Rossi, Alessandro, Santer, René, Schuman, Hester C., Sobieraj, Piotr, Spenger, Johannes, Spiegel, Ronen, Stepien, Karolina M., Tal, Galit, Tanšek, Mojca Zerjav, Torkar, Ana Drole, Tchan, Michel, Thyagu, Santhosh, Schrier Vergano, Samantha A., Vucko, Erika, Weinhold, Natalie, Zsidegh, Petra, Wortmann, Saskia B.

Volltext

Myocardial Fibrosis in Glycogen Storage Disease Type III von Moon, James C.C., Mundy, Helen R., Lee, Philip J., Mohiaddin, Raad H., Pennell, Dudley J.

Volltext

Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III von Moon, James C C, Mundy, Helen R, Lee, Philip J, Mohiaddin, Raad H, Pennell, Dudley J

Volltext

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study von Elkhateeb, Nour, Olivieri, Giorgia, Siri, Barbara, Boyd, Stewart, Stepien, Karolina M., Sharma, Reena, Morris, Andrew A. M., Hartley, Thomas, Crowther, Laura, Grunewald, Stephanie, Cleary, Maureen, Mundy, Helen, Chakrapani, Anupam, Lachmann, Robin, Murphy, Elaine, Santra, Saikat, Uudelepp, Mari‐Liis, Yeo, Mildrid, Bernhardt, Isaac, Sudakhar, Sniya, Chan, Alicia, Mills, Philippa, Ridout, Debora, Gissen, Paul, Dionisi‐Vici, Carlo, Baruteau, Julien

Volltext

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b von Grünert, Sarah C., Gautschi, Matthias, Baker, Joshua, Boyer, Monica, Burlina, Alberto, Casswall, Thomas, Corpeleijn, Willemijn, Çıki, Kismet, Cotter, Melanie, Crushell, Ellen, Derks, Terry G.J., Haas, Dorothea, Kilavuz, Sebile, Kingma, Sandra D.K., Korman, Stanley H., Kozek, Anne, de Laet, Corinne, Mundy, Helen, Nassogne, Marie Cecile, Quintero, Victor, Rossi, Alessandro, Spenger, Johannes, Spiegel, Ronen, Stephenne, Xavier, Stojkov, Darko, Tal, Galit, Veiga-da Cunha, Maria, Wortmann, Saskia B.

Volltext

Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop von Grünert, Sarah C., Derks, Terry G.J., Mundy, Helen, Dalton, R. Neil, Donadieu, Jean, Hofbauer, Peter, Jones, Neil, Uçar, Sema Kalkan, LaFreniere, Jamas, Contreras, Enrique Landelino, Pendyal, Surekha, Rossi, Alessandro, Schneider, Blair, Spiegel, Ronen, Stepien, Karolina M., Wesol-Kucharska, Dorota, Veiga-da-Cunha, Maria, Wortmann, Saskia B.

Volltext

Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency von Yverneau, Mathilde, Leroux, Stéphanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie‐Cécile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, María, Chapman, Kimberly A., Chien, Yin‐Hsiu, Huemer, Martina, Ješina, Pavel, Janssen, Mirian C. H., Kölker, Stefan, Kožich, Viktor, Lavigne, Christian, Lund, Allan Meldgaard, Mochel, Fanny, Morris, Andrew, Pons, Mónica Ruiz, Porras‐Hurtado, Gloria Liliana, Benoist, Jean‐François, Damaj, Léna, Schiff, Manuel, Martins, Ana Maria, Alonso, Javier Blasco, Chabrol, Brigitte, Crushell, Ellen, Dionisi‐Vici, Carlo, Grünewald, Stephanie, Mention, Karine, Mundy, Helen, Murphy, Elaine, Fraile, Pilar Quijada, Ruiz, Carlos José, Ruiz Gómez, Maria Ángeles, Santra, Saikat, Scherer, Thomas, Stainforth, Collette, Stepien, Karolina M., Sunder‐Plassmann, Gere, Van Hove, Johan L. K.

Volltext

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population von Oláhová, Monika, Hardy, Steven A, Hall, Julie, Yarham, John W, Haack, Tobias B, Wilson, William C, Alston, Charlotte L, He, Langping, Aznauryan, Erik, Brown, Ruth M, Brown, Garry K, Morris, Andrew A M, Mundy, Helen, Broomfield, Alex, Barbosa, Ines A, Simpson, Michael A, Deshpande, Charu, Moeslinger, Dorothea, Koch, Johannes, Stettner, Georg M, Bonnen, Penelope E, Prokisch, Holger, Lightowlers, Robert N, McFarland, Robert, Chrzanowska-Lightowlers, Zofia M A, Taylor, Robert W

Volltext