المؤلفون: Tiraboschi, Gilles^{Aff1, IDs10928023098748_cor1}, Marchionni, David, Tuffal, Gilles, Fabre, David, Martinez, Jean-Marie, Haack, Kristina An, Miossec, Patrick, Kittner, Barbara, Daba, Nadia, Hurbin, Fabrice

المصدر: Journal of Pharmacokinetics and Pharmacodynamics. 50(6):461-474

المؤلفون: Mozaffar, Tahseen, Riou França, Lionel, Msihid, Jérôme, Shukla, Pragya, Proskorovsky, Irina, Zhou, Tianyue, Periquet, Magali, An Haack, Kristina, Pollissard, Laurence, Straub, Volker

المصدر: In Molecular Genetics and Metabolism Reports September 2024 40

المؤلفون: Toscano, Antonio, Pollissard, Laurence, Msihid, Jérôme, van der Beek, Nadine, Kishnani, Priya S., Dimachkie, Mazen M., Berger, Kenneth I., DasMahapatra, Pronabesh, Thibault, Nathan, Hamed, Alaa, Zhou, Tianyue, Haack, Kristina An, Schoser, Benedikt

المصدر: In Molecular Genetics and Metabolism February 2024 141(2)

المؤلفون: Mansfield, Carol, Boeri, Marco, Coulter, Josh, Baranowski, Eileen, Sparks, Susan^{Aff3, IDs13023024031607_cor5}, An Haack, Kristina, Hamed, Alaa

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Kishnani, Priya S., Kronn, David, Brassier, Anaïs, Broomfield, Alexander, Davison, James, Hahn, Si Houn, Kumada, Satoko, Labarthe, François, Ohki, Hirotaka, Pichard, Samia, Prakalapakorn, S. Grace, Haack, Kristina An, Kittner, Barbara, Meng, Xianzhang, Sparks, Susan, Wilson, Catherine, Zaher, Atef, Chien, Yin-Hsiu

المصدر: In Genetics in Medicine February 2023 25(2)

المؤلفون: Kishnani, Priya S, Gibson, James B, Gambello, Michael J, Hillman, Richard, Stockton, David W, Kronn, David, Leslie, Nancy D, Pena, Loren DM, Tanpaiboon, Pranoot, Day, John W, Wang, Raymond Y, Goldstein, Jennifer L, An Haack, Kristina, Sparks, Susan E, Zhao, Yang, Hahn, Si Houn

المصدر: Genetics in Medicine. 21(11)

مصطلحات موضوعية: Biological Sciences, Genetics, Digestive Diseases, Clinical Research, Liver Disease, Chronic Liver Disease and Cirrhosis, Pediatric, Adolescent, Child, Child, Preschool, Cohort Studies, Enzyme Replacement Therapy, Female, Genotype, Glycogen Storage Disease Type II, Humans, Infant, Male, Phenotype, Prospective Studies, United States, alpha-Glucosidases, alglucosidase alfa, glycogenosis type 2, GAA pathogenic variants, infantile-onset Pompe disease, late-onset Pompe disease, Pompe ADVANCE Study Consortium, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0z94x25h

المؤلفون: Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi ^{*, *}, Kishnani, Priya S ^*, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M ^†, Schoser, Benedikt ^†

المصدر: In The Lancet Neurology December 2021 20(12):1012-1026

المؤلفون: Hamed, Alaa, An Haack, Kristina, Gwaltney, Chad, Baranowski, Eileen, Stewart, Andrew, Krupnick, Robert, Tyler, Margaret, Sparks, Susan^Aff1, Paty, Jean

المصدر: Orphanet Journal of Rare Diseases. 16(1)

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المؤلفون: Wijburg, Frits A, Bénichou, Bernard, Bichet, Daniel G, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, Haack, Kristina An, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tøndel, Camilla, Tylki-Szymańska, Anna, Ramaswami, Uma

المصدر: PLOS ONE. 10(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Kidney Disease, Rare Diseases, Clinical Research, Prevention, Pediatric, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Renal and urogenital, Adolescent, Biopsy, Brain, Child, Child, Preschool, Demography, Endothelium, Vascular, Fabry Disease, Genotype, Glomerular Filtration Rate, Glycolipids, Humans, Iohexol, Kidney, Male, Mutation, Quality of Life, Skin, Sphingolipids, Trihexosylceramides, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5s98w15b