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SaveBiochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants
Montero-Lopez, Rodrigo; Farman, Mariam R.; Hogler, Florian; Rehder, Catherine; Malli, Theodora; Webersinke, Gerald; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Ozono, Keiichi; Seefried, Lothar; del Angel, Guillermo; Nading, Erica Burner; Huggins, Erin; Rush, Eric T.; Tauer, Josephine T.; Kishnani, Priya S.; Hogler, Wolfgang Share Save Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndromeRubin, Tamar; Bernier, Stephane; Hoon Lim, Lily Siok; Salman, Michael S.; Leung, Edward; Mhanni, Aziz; Marles, Sandra; Greenberg, Cheryl; Perez, Anna; Sun, Yichun; Angers, Isabelle; Vinh, Donald C.; Roussel, Lucie Share Save Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP RegistryKishnani, Priya S.; Seefried, Lothar; Dahir, Kathryn M.; Martos-Moreno, Gabriel a; Hoegler, Wolfgang; Greenberg, Cheryl R.; Fang, Shona; Petryk, Anna; Mowrey, William R.; Linglart, Agnes; Ozono, Keiichi Share Save Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurementHowie, Alison H.; Tingley, Kylie; Inbar-Feigenberg, Michal; Mitchell, John J.; Angel, Kim; Gentle, Jenifer; Smith, Maureen; Offringa, Martin; Butcher, Nancy J.; Campeau, Philippe M.; Chakraborty, Pranesh; Chan, Alicia; Fergusson, Dean; Mamak, Eva; McClelland, Peyton; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Moazin, Zeinab; Rockman-Greenberg, Cheryl; Rupar, C. Anthony; Skidmore, Becky; Stockler, Sylvia; Thavorn, Kednapa; Wyatt, Alexandra; Potter, Beth K. Share Save Share Save Co-developing longitudinal patient registries for phenylketonuria and mucopolysaccharidoses in CanadaAdams, John; Angel, Kim; Mitchell, John J.; Chakraborty, Pranesh; Potter, Beth K.; Inbar-Feigenberg, Michal; Stockler, Sylvia; Lamoureux, Monica; Howie, Alison; Pace, Alex; Butcher, Nancy J.; Rockman-Greenberg, Cheryl; Hayeems, Robin; Laberge, Anne-Marie; Lacaze-Masmonteil, Thierry; Round, Jeff; Offringa, Martin; Oksoui, Maryam; Schulze, Andreas; Speechley, Kathy; Thavorn, Kednapa; Trakadis, Yannis; Wilson, Kumanan Share Save Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults (vol 35, pg 431, 2023)Khan, Aliya A.; Brandi, Maria Luisa; Rush, Eric T.; Ali, Dalal S.; Al-Alwani, Hatim; Almonaei, Khulod; Alsarraf, Farah; Bacrot, Severine; Dahir, Kathryn M.; Dandurand, Karel; Deal, Chad; Ferrari, Serge Livio; Giusti, Francesca; Guyatt, Gordon; Hatcher, Erin; Ing, Steven W.; Javaid, Muhammad Kassim; Khan, Sarah; Kocijan, Roland; Linglart, Agnes; M'Hiri, Iman; Marini, Francesca; Nunes, Mark E.; Rockman-Greenberg, Cheryl; Roux, Christian; Seefried, Lothar; Simmons, Jill H.; Starling, Susan R.; Ward, Leanne M.; Yao, Liang; Brignardello-Petersen, Romina; Lewiecki, E. Michael Share Save Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registryKishnani, Priya S.; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Petryk, Anna; Messali, Andrew; Fang, Shona; Rockman-Greenberg, Cheryl; Ozono, Keiichi; Hoegler, Wolfgang; Seefried, Lothar; Dahir, Kathryn M. Share Save Family-centred care interventions for children with chronic conditions: A scoping reviewChow, Andrea J.; Saad, Ammar; Al-Baldawi, Zobaida; Iverson, Ryan; Skidmore, Becky; Jordan, Isabel; Pallone, Nicole; Smith, Maureen; Chakraborty, Pranesh; Brehaut, Jamie; Cohen, Eyal; Dyack, Sarah; Gillis, Jane; Goobie, Sharan; Greenberg, Cheryl R.; Hayeems, Robin; Hutton, Brian; Inbar-Feigenberg, Michal; Jain-Ghai, Shailly; Khangura, Sara; Mackenzie, Jennifer J.; Mitchell, John J.; Moazin, Zeinab; Nicholls, Stuart G.; Pender, Amy; Prasad, Chitra; Schulze, Andreas; Siriwardena, Komudi; Sparkes, Rebecca N.; Speechley, Kathy N.; Stockler, Sylvia; Taljaard, Monica; Teitelbaum, Mari; Trakadis, Yannis; Van Karnebeek, Clara; Walia, Jagdeep S.; Wilson, Kumanan; Potter, Beth K. Share Save Co-developing The Canadian MPS Registry: A longitudinal rare disease patient registryMitchell, John J.; Inbar-Feigenberg, Michal; Angel, Kim; Chakraborty, Pranesh; Lamoureux, Monica; Adams, John; Potter, Beth K.; Stockler-Ipsirolgu, Sylvia; Howie, Alison H.; Pace, Alex; Butcher, Nancy J.; Greenberg, Cheryl; Hayeems, Robin; Laberge, Anne-Marie; Round, Jeff; Offringa, Martin; Oskoui, Maryam; Ruth, Chelsea; Schulze, Andreas; Speechley, Kathy; Thavorn, Kednapa; Trakadis, Yannis; Wilson, Kumanan; Lacaze, Thierry Share Save The Global ALPL gene variant classification project: Dedicated to deciphering variantsFarman, Mariam R.; Rehder, Catherine; Malli, Theodora; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Ozono, Keiichi; Seefried, Lothar; del Angel, Guillermo; Webersinke, Gerald; Barbazza, Francesca; John, Lisa K.; Mudiyanselage, Sewmi M. A. Delana; Hoegler, Florian; Nading, Erica Burner; Huggins, Erin; Rush, Eric T.; El-Gazzar, Ahmed; Kishnani, Priya S.; Hoegler, Wolfgang Share Save The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature SurveillanceBrandi, Maria Luisa; Khan, Aliya A.; Rush, Eric T.; Ali, Dalal S.; Al-Alwani, Hatim; Almonaei, Khulod; Alsarraf, Farah; Bacrot, Severine; Dahir, Kathryn M.; Dandurand, Karel; Deal, Chad; Ferrari, Serge Livio; Giusti, Francesca; Guyatt, Gordon; Hatcher, Erin; Ing, Steven W.; Javaid, Muhammad Kassim; Khan, Sarah; Kocijan, Roland; Lewiecki, E. Michael; Linglart, Agnes; M'Hiri, Iman; Marini, Francesca; Nunes, Mark E.; Rockman-Greenberg, Cheryl; Seefried, Lothar; Simmons, Jill H.; Starling, Susan R.; Ward, Leanne M.; Yao, Liang; Brignardello-Petersen, Romina; Roux, Christian Share Save Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working GroupRush, Eric; Brandi, Maria Luisa; Khan, Aliya; Ali, Dalal S.; Al-Alwani, Hatim; Almonaei, Khulod; Alsarraf, Farah; Bacrot, Severine; Dahir, Kathryn M.; Dandurand, Karel; Deal, Chad; Ferrari, Serge Livio; Giusti, Francesca; Guyatt, Gordon; Hatcher, Erin; Ing, Steven W.; Javaid, Muhammad Kassim; Khan, Sarah; Kocijan, Roland; Lewiecki, E. Michael; Linglart, Agnes; M'Hiri, Iman; Marini, Francesca; Nunes, Mark E.; Rockman-Greenberg, Cheryl; Roux, Christian; Seefried, Lothar; Starling, Susan R.; Ward, Leanne; Yao, Liang; Brignardello-Petersen, Romina; Simmons, Jill H. Share Save Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adultsKhan, Aliya A.; Brandi, Maria Luisa; Rush, Eric T.; Ali, Dalal S.; Al-Alwani, Hatim; Almonaei, Khulod; Alsarraf, Farah; Bacrot, Severine; Dahir, Kathryn M.; Dandurand, Karel; Deal, Chad; Ferrari, Serge Livio; Giusti, Francesca; Guyatt, Gordon; Hatcher, Erin; Ing, Steven W.; Javaid, Muhammad Kassim; Khan, Sarah; Kocijan, Roland; Linglart, Agnes; M'Hiri, Iman; Marini, Francesca; Nunes, Mark E.; Rockman-Greenberg, Cheryl; Roux, Christian; Seefried, Lothar; Simmons, Jill H.; Starling, Susan R.; Ward, Leanne M.; Yao, Liang; Brignardello-Petersen, Romina; Lewiecki, E. Michael Share Save Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP RegistryDahir, Kathryn M.; Kishnani, Priya S.; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Petryk, Anna; Rockman-Greenberg, Cheryl; Martel, Samantha E.; Ozono, Keiichi; Hoegler, Wolfgang; Seefried, Lothar Share Save Development of a core outcome set for mucopolysaccharidoses (MPS) in children: Results from Delphi surveys and a consensus workshopHowie, Alison H.; Wyatt, Alexandra; Inbar-Feigenberg, Michal; Mitchell, John J.; Smith, Maureen; Angel, Kim; Gentle, Jenifer; Butcher, Nancy J.; Offringa, Martin; Campeau, Philippe M.; Chan, Alicia K.; Chakraborty, Pranesh; Chow, Andrea; El Turk, Farah; Greenberg, Cheryl R.; Mamak, Eva; Mhanni, Aziz; Rupar, Tony; Sparkes, Rebecca; Thavorn, Kednapa; Tingley, Kylie; Potter, Beth K. Share Save Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersLevy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim Share Save Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP RegistryDahir, Kathryn M.; Seefried, Lothar; Kishnani, Priya S.; Petryk, Anna; Hoegler, Wolfgang; Linglart, Agnes; Martos-Moreno, Gabriel Angel; Ozono, Keiichi; Fang, Shona; Rockman-Greenberg, Cheryl Share Save Development of iPSC-based clinical trial selection platform for patients with ultrarare diseasesSequiera, Glen Lester; Srivastava, Abhay; Sareen, Niketa; Yan, Weiang; Alagarsamy, Keshav Narayan; Verma, Elika; Aghanoori, Mohamad Reza; Aliani, Michel; Kumar, Ashok; Fernyhough, Paul; Rockman-Greenberg, Cheryl; Dhingra, Sanjiv Share Save 
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