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 全选  【符合条件的数据共：7条】

1 Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance [期刊论文]

来源：Frontiers in Pediatrics , 2021

作者:Yishuo Tang;Curt Scharfe;Gang Peng;等

关键词:newborn screening;inborn errors of metabolism;...

使用许可:CC BY

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2 Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC [期刊论文]

来源：Frontiers in Immunology , 2022

作者:Xueling Fang;Huili Yu;Lingtong Huang;等

关键词:glutaric aciduria;hemophagocytic lymphocytosis;...

使用许可:Unknown

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3 Editorial: The expanding clinical and genetic basis of adult inherited neurometabolic disorders [期刊论文]

来源：Frontiers in Neurology , 2023

作者:Hasan Orhan Akman;Acary Souza Bulle Oliveira;Paulo Victor Sgobbi de Souza;等

关键词:inborn errors of metabolism;neurogenetics;...

使用许可:Unknown

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4 Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration [期刊论文]

来源：Frontiers in Neurology , 2023

作者:Agnieszka Jurecka;Jitendra Ganju;Helle C. V. Pfeiffer;等

关键词:ultra-rare disease;orphan disease;...

使用许可:Unknown

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5 Application of the Artificial Intelligence Algorithm Model for Screening of Inborn Errors of Metabolism [期刊论文]

来源：Frontiers in Pediatrics , 2022

作者:Muping Zhou;Liyuan Deng;Yan Huang;等

关键词:artificial intelligence;inborn errors of metabolism;...

使用许可:CC BY

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6 Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism [期刊论文]

来源：Frontiers in Pediatrics , 2019

作者:Emily Y. Tan;Jaap Jan Boelens;Simon A. Jones;等

关键词:hematopoietic stem cell transplantation;bone marrow transplant;...

使用许可:CC BY

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