المؤلفون: Amit Walia, Amy Lynn Birath, Craig A. Buchman

المصدر: Otolaryngology Case Reports, Vol 27, Iss , Pp 100513- (2023)

مصطلحات موضوعية: Zellweger syndrome, Electrocochleography, Peroxisome biogenesis disorder, Cochlear implantation, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468548823000085; https://doaj.org/toc/2468-5488

URL الوصول: https://doaj.org/article/42c8a67ede714599ac703ac14a5f5eab

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, Roberta^{Aff10, Aff11}, Bernard, Geneviève^{Aff1, Aff12, Aff13}, Braverman, Nancy^{Aff14, IDs10048022006847_cor14}

المصدر: neurogenetics. 23(2):115-127

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

Relation: http://www.sciencedirect.com/science/article/pii/S2329050121001376; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/8cbf07d636cf46afa1661d18efa2eb4c

المؤلفون: Cheillan, David^{Aff7, Aff8}

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Xiao, Junjie, Series Editor^Aff5, Lizard, Gérard, editor^Aff6

المصدر: Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases. 1299:71-80

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

URL الوصول: https://doaj.org/article/a45a422967144db6a090a288c29189f1

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المؤلفون: Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni

المصدر: Journal of Biochemical and Clinical Genetics, Vol 4, Iss 2, Pp 115-117 (2021)

مصطلحات موضوعية: peroxisome biogenesis disorder, pex6 gene, saudi arabia, vlcfa, zellweger syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=53032; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/7f97c27a7a1647e2802e0f4072df35d4

المؤلفون: Ana-Maria Slanina, Adorata-Elena Coman, Dana-Teodora Anton-Păduraru, Elena Popa, Carmen-Liliana Barbacariu, Otilia Novac, Antoneta Dacia Petroaie, Agnes-Iacinta Bacușcă, Mihaela Manole, Adriana Cosmescu

المصدر: Children, Vol 10, Iss 3, p 530 (2023)

مصطلحات موضوعية: infantile Refsum disease, PEX6 mutation, peroxisome biogenesis disorder, metabolic anomalies, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/10/3/530; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/3471cd996a434de19c2dc0b2db9de57e

المؤلفون: Anderson, Janaina Nogueira^Aff1, Ammous, Zineb, Eroglu, Yasemen, Hernandez, Erick, Heubi, James, Himes, Ryan, Palle, Sirish

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

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