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NGLY1 deficiency - clinical features and therapeutic strategy.

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Title: NGLY1 deficiency - clinical features and therapeutic strategy.
Authors: Fujihira H; Glycometabolic Biochemistry Laboratory, Pioneering Research Institute, RIKEN, Wako, Saitama, Japan. haruhiko.fujihira@riken.jp.; Division of Glycobiologics, Juntendo University Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan. haruhiko.fujihira@riken.jp., Hirayama H; Glycometabolic Biochemistry Laboratory, Pioneering Research Institute, RIKEN, Wako, Saitama, Japan.; Institute for Glyco-Core Research (iGCORE), Gifu University, Yanagido, Gifu, Japan., Suzuki T; Glycometabolic Biochemistry Laboratory, Pioneering Research Institute, RIKEN, Wako, Saitama, Japan. tsuzuki_gm@riken.jp.
Source: Journal of human genetics [J Hum Genet] 2025 Jul 29. Date of Electronic Publication: 2025 Jul 29.
Publication Type: Journal Article; Review
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Fujihira+H%22">Fujihira H</searchLink>; Glycometabolic Biochemistry Laboratory, Pioneering Research Institute, RIKEN, Wako, Saitama, Japan. haruhiko.fujihira@riken.jp.; Division of Glycobiologics, Juntendo University Graduate School of Medicine, Bunkyo-ku, Tokyo, Japan. haruhiko.fujihira@riken.jp.<br /><searchLink fieldCode="AU" term="%22Hirayama+H%22">Hirayama H</searchLink>; Glycometabolic Biochemistry Laboratory, Pioneering Research Institute, RIKEN, Wako, Saitama, Japan.; Institute for Glyco-Core Research (iGCORE), Gifu University, Yanagido, Gifu, Japan.<br /><searchLink fieldCode="AU" term="%22Suzuki+T%22">Suzuki T</searchLink>; Glycometabolic Biochemistry Laboratory, Pioneering Research Institute, RIKEN, Wako, Saitama, Japan. tsuzuki_gm@riken.jp.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2025 Jul 29. <i>Date of Electronic Publication: </i>2025 Jul 29.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1038/s10038-025-01376-4
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      – Code: eng
        Text: English
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      – TitleFull: NGLY1 deficiency - clinical features and therapeutic strategy.
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            – D: 29
              M: 07
              Text: 2025 Jul 29
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