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Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy by Takanori Onuki, Makiko Tajika, Yohei Sugiyama, Masaru Shimura, Keiko Ichimoto, Toju Tanaka, Hiromi Nyuzuki, Motomichi Kosuga, Ohsuke Migita, Tetsuya Ito, Hideo Sasai, Ryosuke Bo, Junpei Hamada, Takashi Hamazaki, Norio Sakai, Takahito Inoue, Kimitoshi Nakamura, Torayuki Okuyama, Kei Murayama
Published 2025-07-01Get full text
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P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria by Nicola Longo, Francjan van Spronsen, Ania Muntau, Lali Margvelashvili, Heidi Peters, Ida Vanessa Schwartz, Takashi Hamazaki, Maria Avanise Yumi Minami, Laura Guilder, Drago Bratkovic, Melissa Lah, Janet Thomas, Frank Rutsch, Ertugrul Kiykim, Roberto Zori, Mika Ishige, Kimberly Ingalls, Catalina Hughes, Lan Gao, Zhenming Zhao, Neil Smith
Published 2025-01-01Get full text
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