Search Results - "leukodystrophy"

Screening for known mutations in <it>EIF2B </it>genes in a large panel of patients with premature ovarian failure by Bakalov Vladimir K, Vanderhoof Vien H, Schiffmann Raphael, Gauthier-Barichard Fernande, Fogli Anne, Nelson Lawrence M, Boespflug-Tanguy Odile

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A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor by Crystal Chang, B.S, Ashish O. Gupta, M.B.B.S., M.P.H, Paul J. Orchard, M.D, David R. Nascene, M.D, Janell Kierstein, M.S, Rebecca K. Tryon, M.S., M.A, Troy C. Lund, M.D., Ph.D

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Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review by Jayesh Sheth, Siddharth Shah, Chaitanya Datar, Kaveri Bhatt, Pooja Raval, Aadhira Nair, Deepika Jain, Jhanvi Shah, Frenny Sheth, Harsh Sheth

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Neurodegeneration in a Drosophila model of adrenoleukodystrophy: the roles of the Bubblegum and Double bubble acyl-CoA synthetases by Anna Sivachenko, Hannah B. Gordon, Suzanne S. Kimball, Erin J. Gavin, Joshua L. Bonkowsky, Anthea Letsou

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Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements by Dietrich Matern, Khaja Basheeruddin, Tracy L. Klug, Gwendolyn McKee, Patricia U. Edge, Patricia L. Hall, Joanne Kurtzberg, Joseph J. Orsini

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Matched Unrelated Hematopoietic Stem Cell Transplant in Juvenile-Onset Krabbe's Disease by Ruchira Misra, Sunil Bhat, Suhani Shah, Anaita Hegde, Hiren Panwala, Divyata Hingwala

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Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report by Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Aliagha Alishiri, Mohammad Keramatipour, Zeynab Javanfekr Shahri, Saeid Morovvati

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Trends in volume-regulated anion channel (VRAC) research: visualization and bibliometric analysis from 2014 to 2022 by Tianbao Liu, Tianbao Liu, Tianbao Liu, Yin Li, Dawei Wang, Dawei Wang, Dawei Wang, Dawei Wang, Tobias Stauber, Jiajun Zhao, Jiajun Zhao, Jiajun Zhao

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Leucodystrophies at children by Wiktoria Sielwanowska, Bartłomiej Syzdoł, Anna Rzewuska, Monika Żybowska, Magdalena Chrościńska-Krawczyk

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Differential Diagnosis of Pediatric Multiple Sclerosis by Maria Milagros Galardi, Cristina Gaudioso, Saumel Ahmadi, Emily Evans, Laura Gilbert, Soe Mar

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Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS by Stephanie Tantzer, Karen Sperle, Kaitlin Kenaley, Jennifer Taube, Grace M. Hobson

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Characterization of MRI White Matter Signal Abnormalities in the Pediatric Population by Katharina J. Wenger, Caroline E. Koldijk, Elke Hattingen, Luciana Porto, Wiebke Kurre

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Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report by Safoura Zardadi, Ehsan Razmara, Maryam Rasoulinezhad, Meisam Babaei, Mohammad Reza Ashrafi, Neda Pak, Masoud Garshasbi, Ali Reza Tavasoli

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