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original article |
Date |
Title |
Authors Max. 6 Authors |
| 1 |
[GO] |
2024―Apr―15 |
P.55 Innovation in metabolic nutrition: COVID-19 outreach to support patients on a low protein diet |
EM Stelle, L McGinty, KD Rowzer, R Finn |
| 2 |
[GO] |
2024―Apr―15 |
P.53 The effect of the Covid-19 pandemic on weight change and body mass index in children with inborn errors of metabolism |
L Nagy, S Belfaqeeh, M Inbar-Feigenberg |
| 3 |
[GO] |
2024―Apr―04 |
COVID-19 vaccine acceptance in individuals with PKU |
Matthew Mangel, Kimberly Parkin, Stephanie Sacharow |
| 4 |
[GO] |
2024―Jan―31 |
Patient-reported experiences during the SARS-CoV-2 (COVID-19): Results from a cross-sectional survey |
Sneha Patel, Lucy H.H. Parker, Sophie Thomas, Karolina M. Stepien, Stuart L. Forshaw-Hulme, Gisela Wilcox, Uma Ramaswami |
| 5 |
[GO] |
2023―May―11 |
COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity |
Ayça Burcu Kahraman, Yılmaz Yıldız, Kısmet Çıkı, Izzet Erdal, Halil Tuna Akar, Ali Dursun, Ayşegül Tokatlı, Serap Sivri |
| 6 |
[GO] |
2023―Feb―27 |
Phenotypic changes in low-density lipoprotein particles as markers of adverse clinical outcomes in COVID-19 |
Helison Rafael P. do Carmo, Marcos Y. Yoshinaga, Alejandro Rosell Castillo, Adriano de Britto Chaves-Filho, Isabella Bonilha, Joaquim Barreto, Stéfanie Primon Muraro, Gabriela Fabiano de Souza, Gustavo Gastão Davanzo, Maurício Perroud Junior, Kishal Lukhna, Mpiko Ntsekhe, Sean Davidson, Licio A. Velloso, Wilson Nadruz, Luiz Sérgio F. de Carvalho, Miguel Sáinz-Jaspeado, Alessandro S. Farias, José Luiz Proença-Módena, Pedro M. Moraes-Vieira, Sotirios K. Karathanasis, Derek Yellon, Sayuri Miyamoto, Alan T. Remaley, Andrei C. Sposito |
| 7 |
[GO] |
2023―Feb―08 |
Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter |
Dafne D.G. Horovitz, Anneliese L. Barth, Welton C. Alves, Juan C. Llerena |
| 8 |
[GO] |
2022―Oct―11 |
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome |
Asako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, Julia Hacker, Benjamin Davis, Guy Helman, Francesco Gavazzi, Laura Adang, Russell D'Aiello, Patrick Winters, Devon Cordova, Taibeen Khandaker, Houping Ni, Ying Tam, Paulo Lin, Drew Weissman, Justine Shults, Adeline Vanderver |
| 9 |
[GO] |
2022―Sep―05 |
In vitro activity of cysteamine against SARS-CoV-2 variants |
Jess Thoene, Robert F. Gavin, Aaron Towne, Lauren Wattay, Maria Grazia Ferrari, Jennifer Navarrete, Ranajit Pal |
| 10 |
[GO] |
2022―May―01 |
Covid-19: Possible trigger of SLC13A3 reversible leukoencephalopathy relapse? |
Apolline Imbard, Julie Pernet, Clément Tarrano, Denis Lacroix, Monique Elmaleh-Bergès, Manuel Schiff |
| 11 |
[GO] |
2022―Mar―25 |
Examining the self-described impact of COVID-19 on the lives and interactions of adults with PKU |
R Powers, N Kuijper, P van de Hart, C Borre |
| 12 |
[GO] |
2022―Mar―18 |
BIOCHEMICAL LABORATORY ROTATION: OPTIMIZING EDUCATION DURING A PANDEMIC |
Tiffany Swaringer, Jessica Albert, Debra Regier |
| 13 |
[GO] |
2022―Mar―18 |
RISK MITIGATION BEHAVIORS TO PREVENT INFECTION IN THE MITOCHONDRIAL DISEASE COMMUNITY DURING THE COVID19 PANDEMIC |
Eliza Gordon-Lipkin, Shannon Kruk, Elizabeth Thompson, Chris Marcum, Peter McGuire |
| 14 |
[GO] |
2022―Feb―03 |
The impact of COVID-19 on Brazilian children with MPS: Advocate group perspective |
Maria Carolina F.A. Oliveira, Brianna D. Yund, Nathan Grant, Julie B. Eisengart, Roberto Giugliani |
| 15 |
[GO] |
2022―Feb―03 |
Effect of COVID19 pandemic on Argentinian Fabry and Gaucher patients |
Paula A. Rozenfeld, Isaac Kisinovsky |
| 16 |
[GO] |
2021―Aug―13 |
The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system |
Praveena Narayanan, Shiny Nair, Manisha Balwani, Maricar Malinis, Pramod Mistry |
| 17 |
[GO] |
2021―Jul―06 |
Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses |
Julie B. Eisengart, Amy N. Esler, N. Mathew Ellinwood, Rebekah L. Hudock, Kelly E. King, Terri L. Klein, Chimei Lee, Jonathan Morton, Kim Stephens, Richard Ziegler, Cara O'Neill |
| 18 |
[GO] |
2021―Apr―09 |
Integrative analyses identify genes and their functional consequences underlying COVID-19 hospitalization |
Kritika Singh, Gita Pathak, Tyne Miller-Fleming, Frank Wendt, Nava Ehsan, Kangcheng Hou, Ruth Johnson, Zeyun Lu, Shyamalika Gopalan, Loic Yang, Pejman Mohammadi, Bogdan Pasaniuc, Renato Polimanti, Lea Davis, Nicholas Mancuso |
| 19 |
[GO] |
2021―Apr―09 |
Genetic modifiers of IL6 levels at baseline in COVID-19 infected patients |
Sandra Smieszek |
| 20 |
[GO] |
2021―Apr―09 |
Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection |
Isabelle Thiffault, Emily Farrow, Ana Cohen, Tricia Zion, Shelby Neal, Warren Cheung, Jeffrey Johnston, Neil Miller, Margaret Gibson, Adam Walter, Laura Puckett, Nyshele Posey, Annapoorna Nair, Brittany McDonald, Mary Elfrink, Suzanne Herd, Tomi Pastinen |
| 21 |
[GO] |
2021―Apr―09 |
Impact of COVID-19 on newborn screening in South Texas |
Scott Ward, Laura Palmer Mackay, V. Reid Sutton, Kristian Divin |
| 22 |
[GO] |
2021―Apr―09 |
The impact of COVID-19 on pediatric diagnostic odysseys |
Margaret Waltz, Jeannette Bensen, Ann Katherine M. Foreman, Tracey Grant, Kristen Hassmiller Lich, Lonna Mollison, Brooke Staley, R. Jean Cadigan |
| 23 |
[GO] |
2021―Apr―09 |
Clinical genetic counselor experience in the new/expanded adoption of telehealth in the US and Canada during the COVID-19 pandemic |
Daria Ma, Priyanka Ahimaz, Stephanie Cohen, Lola Cook, Jessica Giordano, Pooja Mohan, James Mirocha |
| 24 |
[GO] |
2021―Apr―09 |
Experiences of telemedicine in genetic practices during the COVID-19 pandemic |
Radhika Dhamija, Aaina Kochhar |
| 25 |
[GO] |
2021―Apr―09 |
Telemedicine challenges and strategies for the medical nutrition therapy of patients with inherited metabolic disorders during the COVID-19 pandemic |
Rani Singh, Theresa Pringle, Aileen Kenneson |
| 26 |
[GO] |
2021―Apr―09 |
Provision of reproductive and cancer genetics services during COVID-19 pandemic |
Andrew Wagner, Lee Shulman, Terri Lefler, Brittany DeGreef, Jeffrey Dungan |
| 27 |
[GO] |
2021―Apr―09 |
Prenatal genetic screening and diagnostic testing during the COVID-19 pandemic in the Bronx, NY |
Sara Rabin-Havt, Miranda Blanco-Breindel, Emily Suskin, Michelle Bina, Pe’er Dar, Susan Klugman |
| 28 |
[GO] |
2021―Apr―09 |
Extending and adapting the functions of genetic laboratories during the COVID-19 pandemic-challenges and successes |
Lora Bean, Eprem Chin, Ian Jarvis, Laura Schmitt, Dayle Blencowe, Bruno Ping, Jan Gurr, Zeqiang Ma, Evangeline Voultsis, Stephanie Dallaire, Nam Le, Andrea Behlmann, Sean Romigh, PJ Borandi, Madhuri Hegde |
| 29 |
[GO] |
2021―Apr―09 |
A comprehensive genome report for COVID-19 patients: GENCOV Study Canada |
Erika Frangione, Selina Casalino, Sunakshi Chowdhary, Chloe Mighton, Hanna Faghfoury, Yvonne Bombard, Lisa Strug, Trevor Pugh, Jared Simpson, Matthew Lebo, Limin Hao, William Lane, Jennifer Taher, Jordan Lerner-Ellis |
| 30 |
[GO] |
2021―Apr―09 |
A genetic counselling protocol for the return of genomic sequencing and serological results to COVID-19 positive patients: GENCOV Study Canada |
Selina Casalino, Hanna Faghfoury, Sunakshi Chowdhary, Erika Frangione, Chloe Mighton, Yvonne Bombard, Jennifer Taher, Jordan Lerner-Ellis |
| 31 |
[GO] |
2021―Apr―09 |
In silico analysis of similar protein sequences between Sars-Cov-2 and BCG vaccine |
Busra Goksel Tulgar, Fahrettin Duymus, Deniz Esin, Fatma Betul Maden, Ebru Marzioglu Ozdemir, Nadir Kocak |
| 32 |
[GO] |
2021―Apr―09 |
Newborn screening pilot study in time of pandemic: Duchenne Muscular Dystrophy pilot project experience |
Dorota Gruber, Wendy Chung, Julia Wynn, Lorraine Verdade, David Tegay, Michele Caggana, Norma Tavakoli |
| 33 |
[GO] |
2021―Feb―24 |
Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown |
Edward I. Ginns, Emory Ryan, Ellen Sidransky |
| 34 |
[GO] |
2021―Feb―01 |
Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center |
Ida V.D. Schwartz, Thiago O. Silva, Fabiano O. Poswar, Carolina F.M. Souza, Roberto Giugliani |
| 35 |
[GO] |
2021―Feb―01 |
Need leads to change: Transition to home infusion in Pompe disease in Brazil in the COVID-19 pandemic |
Dafne Dain Gandelman Horovitz, Anneliese Lopes Barth, Welton Correia Alves, Juan Clinton Llerena |
| 36 |
[GO] |
2021―Feb―01 |
Social distancing, home-infusion and oral therapy: Evolving paradigms on Gaucher disease management in Spain during COVID-19 pandemic |
Marcio M. Andrade-Campos, Beatriz Escuder Azuara, Conchita Perez-Valero, Laura Lopez de Frutos, Irene Serrano Gonzalo |
| 37 |
[GO] |
2021―Feb―01 |
COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective |
Ida V.D. Schwartz, Dévora N. Randon, Lethicia C. Ferraro, Carolina F.M. de Souza, Dafne D.G. Horovitz, Natan M. de Sá, Decio Brunoni |
| 38 |
[GO] |
2021―Feb―01 |
Measures to mitigate disruption due to the COVID-19 pandemic of the MODIFY phase 3 pivotal trial in patients with Fabry disease |
Aline Frey, Luba Trokan, Markus Vogler, Derralynn Hughes, Alberto Gimona |
| 39 |
[GO] |
2021―Feb―01 |
The impact of the COVID-19 pandemic on patients with inherited metabolic conditions: A survey in Wales |
Amanda Daniel, Vaughan Owens, Kate Maw |
| 40 |
[GO] |
2021―Feb―01 |
COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic |
Emory Ryan, Grisel Lopez, Manisha Balwani, Deborah Barbouth, T. Andrew Burrow, Edward Ginns, Ozlem Goker-Alpan, Gregory Grabowski, Reena Kartha, Priya Kishnani, Heather Lau, Chung Lee, Pramod Mistry, Gustavo Maegawa, Seymour Packman, Carlos Prada, Barry Rosenbloom, Tamanna Roshan Lal, Raphael Schiffmann, Neal Weinreb, Ellen Sidransky |
| 41 |
[GO] |
2021―Feb―01 |
Modeling potential interactions between oral Gaucher disease treatment and investigational COVID-19 therapies |
Siddhee A. Sahasrabudhe, Mahmoud Al-Kofahi, James C. Cloyd, Neal Weinreb, Reena V. Kartha |
| 42 |
[GO] |
2021―Feb―01 |
Informing patients with rare diseases about COVID-19: Creation of the “Beto and the Coronavirus” booklet |
Matheus V. Wilke, Carolina Fischinger Moura de Souza, Roberto Giugliani, Ida V. Schwartz |
| 43 |
[GO] |
2021―Feb―01 |
Home treatment for lysosomal diseases during COVID-19: German experience |
Nesrin Karabul, Frank Rose, Gabriella Cipra |
| 44 |
[GO] |
2021―Feb―01 |
Fabry disease and COVID-19: International expert recommendations for management based on real-world experience |
Dawn A. Laney, Dominique P. Germain, João Paulo Oliveira, Alessandro P. Burlina, Gustavo H. Cabrera, Geu-Ru Hong, Robert J. Hopkin, Dau-Ming Niu, Mark Thomas, Hernán Trimarchi, William R. Wilcox, Juan M. Politei, Alberto Ortiz |
| 45 |
[GO] |
2021―Feb―01 |
Impact of SARS-CoV-2 infection on Gaucher disease patients in Italy |
Maria Domenica Cappellini, Antonio Barbato, Francesca Carubbi, Maja Di Rocco, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Antonella Quarta, Maurizio Scarpa, Marco Spada |
| 46 |
[GO] |
2021―Feb―01 |
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York |
Luca Fierro, Nora Nesheiwat, Hetanshi Naik, Pramod K. Mistry, Manisha Balwani |
| 47 |
[GO] |
2021―Feb―01 |
Impact of SARS-CoV-2 on patients with lysosomal diseases in a major NYC hospital system |
Heather A. Lau |
| 48 |
[GO] |
2021―Feb―01 |
Impact of SARS-CoV-2 pandemic on the care for patients with lysosomal disorders: The experience of a Mexican pediatric center |
Carlos Patricio Acosta-Rodriguez-Bueno, Magdalena Cerón-Rodriguez, Daniela Castillo-Garcia |
| 49 |
[GO] |
2021―Feb―01 |
Impact of SARS-CoV-2 pandemic on the first Spanish national domiciliary enzymatic infusion strategy for lysosomal diseases |
Jorge Peris, María José Esteban, Jaqueline Robert, Philip Wikman, José Miguel Seguí, Ruth Cañizares, Pedro Esteve, Paloma Chazarra, María Luisa Asensio, Verónica Martínez, Azucena Sempere, David Balaz, Andrea Riaño, Lourdes Lajara, Vicente Giner |
| 50 |
[GO] |
2021―Feb―01 |
Neuronal ceroid lipofuscinosis assessment utilizing virtual visits during a pandemic |
Amy Vierhile, Grace A. Zimmerman, Margaux Masten, Camille Corre, Heather R. Adams, Jonathan W. Mink, Erika F. Augustine |
| 51 |
[GO] |
2020―Dec―17 |
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York |
Luca Fierro, Nora Nesheiwat, Hetanshi Naik, Praveena Narayanan, Pramod K. Mistry, Manisha Balwani |
| 52 |
[GO] |
2020―Sep―25 |
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective |
Mohamed A. Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès-Saladelafont, Mounika Endrakanti, Pilar Giraldo, Sarah Catharina Grünert, Neerja Gupta, Madhulika Kabra, Ina Knerr, Johannes Krämer, Alice Kuster, Elena Levtchenko, Lock-Hock Ngu, M. Mar Rovira-Remisa, Jörn Oliver Sass, Jolanta Sykut-Cegielska, Albina Tummolo, Lambertus P. van den Heuvel |
| 53 |
[GO] |
2020―Jul―28 |
Impact of COVID-19 pandemic on patients with Fabry disease: An Italian experience |
Eleonora Riccio, Maurizio Pieroni, Giuseppe Limoneglli, Antonio Pisani |
| 54 |
[GO] |
2020―Jun―06 |
Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued |
Juan Politei |
| 55 |
[GO] |
2020―May―11 |
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges |
Pramod Mistry, Manisha Balwani, Deborah Barbouth, T. Andrew Burrow, Edward I. Ginns, Ozlem Goker-Alpan, Gregory A. Grabowski, Reena V. Kartha, Priya S. Kishnani, Heather Lau, Chung U. Lee, Grisel Lopez, Gustavo Maegawa, Seymour Packman, Carlos Prada, Barry Rosenbloom, Tamanna Roshan Lal, Rapheal Schiffmann, Neal Weinreb, Ellen Sidransky |
| 56 |
[GO] |
2020―Apr―29 |
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience |
Sechi Annalisa, Macor Daniela, Valent Serena, Da Riol Rosalia Maria, Zanatta Manuela, Spinelli Alessandro, Bianchi Katja, Bertossi Nadia, Dardis Andrea, Valent Francesca, Scarpa Maurizio |
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