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Disorders of mitochondrial fatty acid oxidation with an emphasis on control of insulin secretion by short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The Neuronal-Ceroid Lipofuscinoses. A stufdy of the function of CLN3P, the protein responsible for Juvenile Batten Disease
Clinical Expertise
Pediatric Clinical Chemistry with an emphasis on inborn errors of metabolism. Director of a full service metabolic disease laboratory.
Itmat Expertise
1. Define genetic defects of mitochondrial fatty acid oxidation, identify diagnostic biomarkers and study intramitochondrial compartmentalization of matrix proteins
2. Study basic elements of neuronal death in neuronal ceroid-lipofuscinosis ( Batten disease) and develop an animal model to test therapies to prevent neuronal death
Disorders of mitochondrial fatty acid oxidation with an emphasis on control of insulin secretion by short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The Neuronal-Ceroid Lipofuscinoses. A stufdy of the function of CLN3P, the protein responsible for Juvenile Batten Disease
Clinical Expertise
Pediatric Clinical Chemistry with an emphasis on inborn errors of metabolism. Director of a full service metabolic disease laboratory.
Itmat Expertise
1. Define genetic defects of mitochondrial fatty acid oxidation, identify diagnostic biomarkers and study intramitochondrial compartmentalization of matrix proteins
2. Study basic elements of neuronal death in neuronal ceroid-lipofuscinosis ( Batten disease) and develop an animal model to test therapies to prevent neuronal death
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论文共 469 篇作者统计合作学者相似作者
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Archivingno. 1 (2023): 165-171
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Belle Collaboration, D. Liventsev,I. Adachi,H. Aihara,S. Al Said,D. M. Asner, H. Atmacan,R. Ayad, V. Babu,Sw. Banerjee, M. Bauer, P. Behera,
arxiv(2022)
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Melinda Palma, Kathryn McVicar,Michele Spencer-Manzon, Henna Tiwary,Jie Chen,Stephen Master,Miao He,Michael Bennett,Phillip Pearl,Gerard Berry
Molecular Genetics and Metabolismno. 4 (2022): 289-290
Biochemical and Molecular Basis of Pediatric Diseasepp.439-476, (2021)
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