Full Product Details
Author: Nenad Blau ,
Frédéric M. Vaz
Publisher: Springer International Publishing AG
Imprint: Springer International Publishing AG
Edition: Second Edition 2024
ISBN: 9783031588181
ISBN 10: 3031588185
Pages: 533
Publication Date: 14 December 2024
Audience:
Professional and scholarly
,
Professional & Vocational
Format: Hardback
Publisher's Status: Active
Availability: Not yet available
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Author Information
Nenad Blau is a senior consultant in biochemical genetics at the Division of Metabolism, University Children's Hospital in Zürich (UZH), Switzerland. Previously he was the head of the Laboratory for Tetrahydrobiopterin and Neurotransmitter Diseases at the University Children’s Hospital in Zurich and for the last 8 years as a senior consultant in biochemical genetics at the University Children’s Hospital in Heidelberg, Germany. His research group discovered several inborn errors of metabolism, including GTP cyclohydrolase deficiency, pterin-carbinolamine dehydratase deficiency, and sepiapterin reductase deficiency. He established and curates the PAH locus-specific database, database of PKU genotypes and phenotypes, and database of BH4 deficiencies. With colleagues from Vancouver he developed the online knowledgebase of inborn errors of metabolism, IEMbase. He is author of more than 400 research publications, including the standard books Physician's Guide to the Laboratory Diagnosis, Treatment and Follow-up of Inherited Metabolic Disease, and Laboratory Guide to the Methods in Biochemical Genetics. Professor Blau is an honorary member of the Italian Society for Pediatrics. He is also a Deputy Editor-in-Chief at the Molecular Genetics and Metabolism. For his research in the field of tetrahydrobiopterin and phenylketonuria he received the Horst-Bickel Award in 2001, the Gowland Hopkins Award in 2005, and he received the Asbjørn Følling award in 2011. Frédéric Vaz is clinical biochemist specializing in inborn error of metabolism at the Laboratory Genetic Metabolic Diseases in the Amsterdam UMC, Amsterdam, the Netherlands where he also leads the Amsterdam UMC Core Facility Metabolomics. His research group focusses on the metabolism of complex lipids and their role in genetic disease, acquired disorders and ageing. In addition to developing numerous targeted assays to aid the diagnosis of inherited metabolic disorders his group created a set of metabolomics platforms including lipidomics,small molecule metabolomics and fluxomics which were successfully applied to discover new disorders, elucidate disease mechanism and find new diagnostic biomarkers. He is author of more than 200 research publications.
