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个人简介
Dietrich Matern, M.D., has a primary interest in the biochemical diagnosis of inborn errors of metabolism, particularly mitochondrial fatty acid beta-oxidation disorders, organic acidemias, amino acidopathies, lysosomal storage disorders and glycogen storage disorders.
Dr. Matern's research activities primarily involve the development and improvement of laboratory assays for the biochemical diagnosis and follow-up of patients with inborn errors of metabolism. A particular focus in recent years has been on newborn screening for several lysosomal storage disorders, Friedreich's ataxia, Wilson's disease and X-adrenoleukodystrophy.
研究兴趣
论文共 240 篇作者统计合作学者相似作者
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Genetics in Medicine Open (2024): 100904
Amy White, Jordan Bontrager, William Laxen,Perry Loken,Tiffany Grider, Josef Alawneh,Vincent Carson, Emily Lauer, Angela Pickart,Zhiyv Niu,Devin Oglesbee,Dimitar Gavrilov,
Genetics in Medicine Open (2024): 100881
Iris Pantovich,Amy White,April Studinski,Weiyi Mu, Bonnie Kaas,Matthew Bower, Gisele Pino,Dawn Peck, Kyle Salsbery, Emily Lauer, Angela Pickart,Kandelaria Rumilla,
Genetics in Medicine Open (2024): 100880
Molecular Genetics and Metabolismpp.108352-108352, (2024)
Molecular Genetics and Metabolismno. 4 (2024): 108283
Rachel Wurth, Coleman Turgeon,Zinandre Stander,Dietrich Matern,Amy White,Dimitar Gavrilov,Patricia Hall,Matthew Schultz,Silvia Tortorelli,Devin Oglesbee
Genetics in Medicine Open (2024): 100876
Dietrich Matern,Khaja Basheeruddin, Tracy L Klug, Gwendolyn McKee, Patricia U Edge,Patricia L Hall,Joanne Kurtzberg,Joseph J Orsini
International journal of neonatal screeningno. 1 (2024): 10
Karen Sanders,Dawn Peck, Gisele Pino, April Studinski Jones,Amy White,Dimitar Gavrilov,Dietrich Matern,Devin Oglesbee,Matthew Schultz,Silvia Tortorelli,Patricia L. Hall
Molecular Genetics and Metabolismno. 1 (2024): 108455-108455
Molecular Genetics and Metabolismno. 4 (2024): 108339
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