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Neuro Endocrinology Letters|May 1, 2017
A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy geneYukio Horikawa, Mayumi Enya, Nobuaki Yoshikura, et al.Brain & Development|December 14, 2020
Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint's symptomsKazuo Kubota, Hiroki Kawai, Shigeo Takashima, et al.Journal of Human Genetics|November 12, 2010
X-linked adrenoleukodystrophy: diagnostic and follow-up system in JapanNobuyuki Shimozawa, Ayako Honda, Naomi Kajiwara, et al.Endocrine Journal|February 27, 2020
A 29-year-old patient with adrenoleukodystrophy presenting with Addison's diseaseHajime Tanaka, Naoko Amano, Kumiko Tanaka, et al.Molecular Genetics and Metabolism|August 6, 2022
Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activitiesShigeo Takashima, Haruka Fujita, Kayoko Toyoshi, et al.Pediatrics|May 26, 2016
Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum DiseaseMasatoshi Matsunami, Nobuyuki Shimozawa, Akinari Fukuda, et al.Brain & Development|August 7, 2018
Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survivalNuha Al Zaabi, Anoud Kendi, Fatma Al-Jasmi, et al.International Journal of Neonatal Screening|August 27, 2021
Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in JapanNobuyuki Shimozawa, Shigeo Takashima, Hiroki Kawai, et al.The FEBS Journal|October 5, 2006
The common phospholipid-binding activity of the N-terminal domains of PEX1 and VCP/p97Kumiko Shiozawa, Natsuko Goda, Toshiyuki Shimizu, et al.Biochemical and Biophysical Research Communications|March 14, 2002
A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndromeNobuyuki Shimozawa, Tomoko Nagase, Yasuhiko Takemoto, et al.Pageof 8