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Journal of Lipid Research|January 1, 2026
Phosphatidylcholine with C26:0-moiety, a precursor of a diagnostic marker for X-ALD, is synthesized by LPLAT10/LPEAT2Kotaro Hama, Yuko Fujiwara, Koko Imai, et al.
Neuro-Ophthalmology (Aeolus Press)|December 9, 2016
Retinal Ganglion Cell Loss in X-linked Adrenoleukodystrophy with an ABCD1 Mutation (Gly266Arg)Yasuhiro Ohkuma, Takaaki Hayashi, Syouyou Yoshimine, et al.
Human Mutation|May 18, 2004
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated geneNobuyuki Shimozawa, Toshiro Tsukamoto, Tomoko Nagase, et al.
Endocrine Journal|November 29, 2023
Analysis of five cases showing false-high Hemoglobin A1c due to reduced catalase activityKenji Hara, Atsushi Ujiie, Shiori Suzuki, et al.
Brain & Development|December 27, 2005
Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficienciesMichinori Funato, Nobuyuki Shimozawa, Tomoko Nagase, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|September 4, 2024
Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBIKeiko Konomura, Chikahiko Numakura, Akari Nakamura-Utsunomiya, et al.
Pediatric Transplantation|October 18, 2021
Stem cell transplantation for pediatric patients with adrenoleukodystrophy: A nationwide retrospective analysis in JapanKoji Kato, Hiromasa Yabe, Nobuyuki Shimozawa, et al.
Biochimica Et Biophysica Acta|December 14, 2005
Role of Pex19p in the targeting of PMP70 to peroxisomeYoshinori Kashiwayama, Kota Asahina, Hiroyuki Shibata, et al.
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