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1دورية أكاديمية
المؤلفون: Mark Hsu, Amith Subhash
المصدر: Case Reports in Gastroenterology, Vol 17, Iss 1, Pp 168-171 (2023)
مصطلحات موضوعية: liver cirrhosis, zellweger spectrum disorder, infantile refsum disease, peroxisomal biogenesis disorders, liver disease, Diseases of the digestive system. Gastroenterology, RC799-869
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Bhandari, Sushil, Kim, Yong-Il, Nam, In-KooAff2, Aff3, Hong, KwangHeumAff1, Aff2, Jo, YunjuAff2, Aff4, Yoo, Kyeong-Won, Liao, WeifangAff1, Aff2, Lim, Jae-Young, Kim, Seong-JinAff2, Aff6, Um, Jae-Young, Kim, Peter K., Lee, Ho Sub, Ryu, DongryeolAff2, Aff4, Kim, Seok-Hyung, Kwak, SeongAe, Park, Raekil, Choe, Seong-KyuAff1, Aff2, Aff5, Aff6, Aff11, IDs00018023047003_cor17
المصدر: Cellular and Molecular Life Sciences. 80(3)
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3دورية أكاديميةGenotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
المؤلفون: Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
مصطلحات موضوعية: Peroxisome biogenesis disorders, Zellweger spectrum disorder, PEX13, mitochondrial dysfunction, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4دورية أكاديميةGenotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
المؤلفون: Borgia, PaolaAff1, Aff2, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D’Onofrio, GianlucaAff1, Aff2, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, AntonellaAff1, Aff2, Chimenz, Roberto, Mangano, Giuseppe D., Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan GhayoorAff12, Aff13, Accogli, AndreaAff14, Aff15, Schiaffino, Maria Cristina, Maghnie, MohamadAff1, Aff16, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K., Striano, PasqualeAff1, Aff2, Fortuna, SaraAff17, Aff20, Maroofian, Reza, Houlden, Henry, Zara, FedericoAff1, Aff3, Fiorillo, ChiaraAff1, Aff2, IDs13023022024155_cor34, Salpietro, VincenzoAff6, Aff21, IDs13023022024155_cor35
المصدر: Orphanet Journal of Rare Diseases. 17(1)
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5دورية أكاديمية
المؤلفون: Cheung, Anthony, Argyriou, Catherine, Yergeau, Christine, D’Souza, Yasmin, Riou, Émilie, Lévesque, Sébastien, Raymond, Gerald, Daba, Mebratu, Rtskhiladze, Irakli, Tkemaladze, Tinatin, Adang, Laura, La Piana, RobertaAff10, Aff11, Bernard, GenevièveAff1, Aff12, Aff13, Braverman, NancyAff14, IDs10048022006847_cor14
المصدر: neurogenetics. 23(2):115-127
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6دورية أكاديمية
المؤلفون: Catherine Argyriou, Anna Polosa, Ji Yun Song, Samy Omri, Bradford Steele, Bruno Cécyre, Devin S. McDougald, Erminia Di Pietro, Jean-François Bouchard, Jean Bennett, Joseph G. Hacia, Pierre Lachapelle, Nancy E. Braverman
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 225-240 (2021)
مصطلحات موضوعية: peroxisome biogenesis disorder, Zellweger spectrum disorder, PEX1, retinal gene therapy, AAV therapy, metabolic disorder gene therapy, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Janaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, Erick Hernandez, James Heubi, Ryan Himes, Sirish Palle
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
مصطلحات موضوعية: Zellweger spectrum disorder, Zellweger disease, Peroxisome biogenesis disorder, Hepatic injury, Cholic acid therapy, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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8دورية أكاديمية
المؤلفون: Anderson, Janaina NogueiraAff1, Ammous, Zineb, Eroglu, Yasemen, Hernandez, Erick, Heubi, James, Himes, Ryan, Palle, Sirish
المصدر: Orphanet Journal of Rare Diseases. 16(1)
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9دورية أكاديمية
المؤلفون: Kai Chen, Na Zhang, Jing-Bo Shao, Hong Li, Jie Li, Jia-Ming Xi, Wu-Hen Xu, Hui Jiang
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: zellweger spectrum disorder, infantile refsum disease, pex1, hematopoietic stem cell transplantation, curative effect, Pediatrics, RJ1-570
وصف الملف: electronic resource
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10دورية أكاديمية
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