未登录 Modulation of physicochemical, digestibility, and cytotoxic properties of pupunha (Bactris gasipaes) flour by different processes 通过不同工艺对Pupunha（Bactris gasipaes）面粉的理化特性、消化性和细胞毒性进行调控 Souza-Santos, Y. J.; Argento, M. B. V.; Facchinatto, W. M.; Xavier, P. L. P.; Rochetti, A. L.; Lourenco, C. M.; Carvalho, R. A.; Fukumasu, H.; Colnago, L. A.; Vanin, F. M. 分享 收藏
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Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function Carpentieri, Giovanna; Cecchetti, Serena; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Leoni, Chiara; Onesimo, Roberta; Calligari, Paolo; Pietrantoni, Agostina; Ciolfi, Andrea; Ferilli, Marco; Calderan, Cristina; Cappuccio, Gerarda; Martinelli, Simone; Messina, Elena; Caputo, Viviana; Hueffmeier, Ulrike; Mignot, Cyril; Auvin, Stephane; Capri, Yline; Lourenco, Charles Marques; Russell, Bianca E.; Neustad, Ahna; Pierri, Nicola Brunetti; Keren, Boris; Reis, Andre; Cohen, Julie S.; Heidlebaugh, Alexis; Smith, Clay; Thiel, Christian T.; Salviati, Leonardo; Zampino, Giuseppe; Campeau, Philippe M.; Stella, Lorenzo; Tartaglia, Marco; Flex, Elisabetta 分享 收藏
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation Bhat, Shreyas; Rousseau, Justine; Michaud, Coralie; Lourenco, Charles Marques; Stoler, Joan M.; Louie, Raymond J.; Clarkson, Lola K.; Lichty, Angie; Koboldt, Daniel C.; Reshmi, Shalini C.; Sisodiya, Sanjay M.; van Konijnenburg, Eva M. M. Hoytema; Koop, Klaas; Hasselt, Peter M. van; Demurger, Florence; Dubourg, Christele; Sullivan, Bonnie R.; Hughes, Susan S.; Thiffault, Isabelle; Tremblay, Elisabeth Simard; Accogli, Andrea; Srour, Myriam; Blunck, Rikard; Campeau, Philippe M. 分享 收藏
Cassandra Curse or a modern Sisyphus Burden? Recurrent attacks in a cohort of Brazilian patients with acute hepatic porphyrias Lourenco, Charles; Albuquerque, Regina; Fonseca, Jacqueline; Coelho, Erica; Queiroz, Amadeu; Ananias Morita, Maria Da Penha; Estephan, Eduardo; Sansao, Lilian; Fagundes, Thamy; Aguiar, Daniela 分享 收藏
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W.; Godwin, Annie; Zaki, Maha S.; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A.; Rudnik-Schoeneborn, Sabine; Schatz, Ulrich A.; Baggelaar, Marc P.; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Basto, Jorge Pinto; Kortuem, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A.; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenco, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W.; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R.; Zaman, Mashaya; Schrader, Tina A.; Chung, Wendy K.; Guerrini, Renzo; Lupski, James R.; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P.; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W.; Varshney, Gaurav K.; Houlden, Henry; Maroofian, Reza 分享 收藏
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations Szakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Genevieve, David; Rouxel, Flavien; Morin, Denis; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H.; Agre, Katherine E.; Jacquemont, Sebastien; Khadije, Jizi; Giltay, Jacques; van Gassen, Koen; Mero, Gabriella; Gerkes, Erica; Van Bon, Bregje W.; Rinne, Tuula; Pfundt, Rolph; Brunner, Han G.; Caluseriu, Oana; Grasshoff, Ute; Kehrer, Martin; Haack, Tobias B.; Khelifa, Melik Malek; Bergmann, Anke Katharina; Cueto-Gonzalez, Anna Maria; Martorell, Ariadna Campos; Ramachandrappa, Shwetha; Sawyer, Lindsey B.; Fasel, Pascale; Braun, Dominique; Isis, Atallah; Superti-Furga, Andrea; McNiven, Vanda; Chitayat, David; Ahmed, Syed Anas; Brennenstuhl, Heiko; Schwaibolf, Eva M. C.; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi J. C. 分享 收藏
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy Ohori, Sachiko; Miyauchi, Akihiko; Osaka, Hitoshi; Lourenco, Charles Marques; Arakaki, Naohiro; Sengoku, Toru; Ogata, Kazuhiro; Honjo, Rachel Sayuri; Kim, Chong Ae; Mitsuhashi, Satomi; Frith, Martin C.; Seyama, Rie; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Hamanaka, Kohei; Misawa, Kazuharu; Miyatake, Satoko; Saito, Kuniaki; Mizuguchi, Takeshi; Fujita, Atsushi; Matsumoto, Naomichi 分享 收藏
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Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency 溶鞘磷脂的定量和lysosphingomyelin-509用于筛选酸性鞘磷脂酶缺乏症 Kubaski, Francyne; Burlina, Alberto; Pereira, Danilo; Silva, Camilo; Herbst, Zackary M.; Trapp, Franciele B.; Michelin-Tirelli, Kristiane; Lopes, Franciele F.; Burin, Maira G.; Brusius-Facchin, Ana Carolina; Netto, Alice B. O.; Poletto, Edina; Bernardes, Tamires M.; Carvalho, Gerson S.; Sorte, Ney B.; Ferreira, Fernanda N.; Perin, Nilza; Clivati, Marta R.; de Santana, Marnie T. S.; Lobos, Sandra F. G.; Leao, Emilia K. E. A.; Coutinho, Marcelo P.; Pinos, Paola, V; Santos, Maria L. S. F.; Penatti, Debora A.; Lourenco, Charles M.; Polo, Giulia; Giugliani, Roberto 分享 收藏
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation Shimada, Shino; Ng, Bobby G.; White, Amy L.; Nickander, Kim K.; Turgeon, Coleman; Liedtke, Kristen L.; Lam, Christina T.; Font-Montgomery, Esperanza; Lourenco, Charles M.; He, Miao; Peck, Dawn S.; Umana, Luis A.; Uhles, Crescenda L.; Haynes, Devon; Wheeler, Patricia G.; Bamshad, Michael J.; Nickerson, Deborah A.; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M.; Scalco, Fernanda B.; Martinez, Noelia N.; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah, V; Scheffer, Ingrid E.; Rosenzweig, Sergio D.; Adams, David R.; Gahl, William A.; Malicdan, May Christine, V; Raymond, Kimiyo M.; Freeze, Hudson H.; Wolfe, Lynne A. 分享 收藏
Challenges in familial chylomicronemia syndrome diagnosis and management across Latin American countries: An expert panel discussion Santos, Raul D.; Lorenzatti, Alberto; Corral, Pablo; Patricio Nogueira, Juan; Cafferata, Alberto M.; Aimone, Daniel; Lourenco, Charles M.; Izar, Maria Cristina; Lima, Josivan G.; Lottenberg, Ana Maria; Alonso, Rodrigo; Garay, Karla; Ruiz Morales, Alvaro; Vargas-Uricoechea, Hernando; Colon Pena, Christian A.; Roman-Gonzalez, Alejandro 分享 收藏
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study Horovitz, Dafne D. G.; Leao, Emilia K. E. A.; Ribeiro, Erlane M.; Martins, Ana M.; Barth, Anneliese L.; Neri, Joao I. C. F.; Kerstenetzky, Marcelo; Siqueira, Ana C. M.; Ribeiro, Bethania F. R.; Kim, Chong A.; Santos, Francisca C.; Franco, Jose F. S.; Lichtvan, Leniza C. L.; Giuliani, Liane R.; Rodrigues, Maria Do C. S.; Bonatti, Renata C. F.; Teixeira, Thais B.; Goncalves, Alexandra; Lourenco, Charles M.; Pereira, Ane S. S.; Acosta, Angelina X. 分享 收藏
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers Rezende Filho, Flavio Moura; Bremner, Fion; Pedroso, Jose Luiz; de Andrade, Joao Brainer Clares; Marianelli, Bruna Ferraco; Lourenco, Charles Marques; Marques-Junior, Wilson; Franca, Marcondes C., Jr.; Kok, Fernando; Sallum, Juliana M. F.; Parkinson, Michael H.; Barsottini, Orlando G.; Giunti, Paola 分享 收藏
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients Mole, Sara E.; Schulz, Angela; Badoe, Eben; Berkovic, Samuel F.; de Los Reyes, Emily C.; Dulz, Simon; Gissen, Paul; Guelbert, Norberto; Lourenco, Charles M.; Mason, Heather L.; Mink, Jonathan W.; Murphy, Noreen; Nickel, Miriam; Olaya, Joffre E.; Scarpa, Maurizio; Scheffer, Ingrid E.; Simonati, Alessandro; Specchio, Nicola; Von Loebbecke, Ina; Wang, Raymond Y.; Williams, Ruth E. 分享 收藏
Application of a glycinated bile acid biomarker fordiagnosisand assessment of response to treatment in Niemann-pick disease type C1 Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J.; Farhat, Nicole Y.; An Ngoc Dang Do; Porter, Forbes D.; Berry-Kravis, Elizabeth; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenco, Charles M.; Wang, Raymond Y.; Movsesyan, Nina; Plummer, Ellen; Schaffer, Jean E.; Ory, Daniel S.; Jiang, Xuntian 分享 收藏
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity 巴西患者的枫糖浆尿病: 变异和临床表型异质性 Margutti, Ana Vitoria Barban; Silva, Wilson Araujo, Jr.; Garcia, Daniel Fantozzi; de Molfetta, Greice Andreotti; Marques, Adriana Aparecida; Amorim, Tatiana; Prazeres, Vania Mesquita Gadelha; Boy da Silva, Raquel Tavares; Miura, Irene Kazue; Seda Neto, Joao; Santos, Emerson de Santana; Santos, Mara Lucia Schmitz Ferreira; Lourenco, Charles Marques; Tonon, Tassia; Sperb-Ludwig, Fernanda; de Souza, Carolina Fischinger Moura; Schwartz, Ida Vanessa Doederlein; Camelo, Jose Simon, Jr. 分享 收藏
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve 分享 收藏
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