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Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis.

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Title: Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis.
Authors: Kato H; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Yokoyama T; Faculty of Medical Technology, Department of Clinical Engineering and Medical Technology, Niigata University of Health and Welfare, Niigata, Japan., Manabe S; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan. shmanabe1982@gmail.com.; Department of Nephrology, Tokyo Rosai Hospital, Tokyo, Japan. shmanabe1982@gmail.com., Seki M; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Ushio Y; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Makabe S; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Kobayashi S; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Kataoka H; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Nitta K; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan., Hoshino J; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan.
Source: BMC nephrology [BMC Nephrol] 2026 Mar 17; Vol. 27 (1). Date of Electronic Publication: 2026 Mar 17.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis.
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  Data: <searchLink fieldCode="AU" term="%22Kato+H%22">Kato H</searchLink>; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan.<br /><searchLink fieldCode="AU" term="%22Yokoyama+T%22">Yokoyama T</searchLink>; Faculty of Medical Technology, Department of Clinical Engineering and Medical Technology, Niigata University of Health and Welfare, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Manabe+S%22">Manabe S</searchLink>; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan. shmanabe1982@gmail.com.; Department of Nephrology, Tokyo Rosai Hospital, Tokyo, Japan. shmanabe1982@gmail.com.<br /><searchLink fieldCode="AU" term="%22Seki+M%22">Seki M</searchLink>; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan.<br /><searchLink fieldCode="AU" term="%22Ushio+Y%22">Ushio Y</searchLink>; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan.<br /><searchLink fieldCode="AU" term="%22Makabe+S%22">Makabe S</searchLink>; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan.<br /><searchLink fieldCode="AU" term="%22Kobayashi+S%22">Kobayashi S</searchLink>; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan.<br /><searchLink fieldCode="AU" term="%22Kataoka+H%22">Kataoka H</searchLink>; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan.<br /><searchLink fieldCode="AU" term="%22Nitta+K%22">Nitta K</searchLink>; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan.<br /><searchLink fieldCode="AU" term="%22Hoshino+J%22">Hoshino J</searchLink>; Department of Nephrology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku- ku, Tokyo, 162-8666, Japan.
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  Data: <searchLink fieldCode="JN" term="%22100967793%22">BMC nephrology</searchLink> [BMC Nephrol] 2026 Mar 17; Vol. 27 (1). <i>Date of Electronic Publication: </i>2026 Mar 17.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100967793 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2369 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712369%22">14712369 </searchLink><i>NLM ISO Abbreviation: </i>BMC Nephrol <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s12882-026-04899-w
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      – Code: eng
        Text: English
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      – TitleFull: Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis.
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            – D: 17
              M: 03
              Text: 2026 Mar 17
              Type: published
              Y: 2026
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