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020 _a9783030701475
024 7 _a10.1007/978-3-030-70147-5
_2doi
040 _aES-MaUEC
_bspa
_cES-MaUEC
_dES-MaUEC
050 4 _aRB147
_b2021 EB
245 0 _aMitochondrial Diseases :
_bTheory, Diagnosis and Therapy
_cedited by Placido Navas, Leonardo Salviati
250 _aFirst edition 2021
264 1 _aCham
_bSpringer International Publishing
_c2021
300 _a1 recurso en línea (VI, 305 páginas)
_b29 ilustraciones, 23 ilustraciones a color
336 _2rdacontent
_aTexto
_btxt
337 _2rdamedia
_aelectrónico
_bc
338 _2rdacarrier
_arecurso electrónico
_bcr
347 _aArchivo de texto
_bPDF
490 0 _aBiomedical and Life Sciences (SpringerNature-11642)
490 0 _aBiomedical and Life Sciences (R0) (SpringerNature-43708)
505 0 _aChapter 1. MTOCHONRIAL NEUROLOGY: A TALE OF TWO GENOMES (Salvatore DiMauro and Emanuele Barca) -- Chapter 2. Mutations in assembly factors required for the biogenesis of mitochondrial respiratory chain (Cristina Cerqua, Lisa Buson and Eva Trevisson) -- Chapter 3. Mitochondrial DNA: defects, maintenance genes and depletion (Miguel A. Fernández-Moreno, Luis Vázquez-Fonseca, Sara Palacios Zambrano and Rafael Garesse) -- Chapter 4. Mitochondrial translation deficiencies (Veronika Boczonadi, Juliane S. Müller and Rita Horvath) -- Chapter 5. Mitochondria dynamics: definition, players and associated disorders (Maria EugeniaSoriano, Marta Carro Alvarellos, Giovanni Rigoni, and Luca Scorrano) -- Chapter 6. Coenzyme Q biosynthesis disorders (Gloria Brea-Calvo, María Alcázar-Fabra, Eva Trevisson and Plácido Navas) -- Chapter 7. Cytochrome c defects in human disease (Leonardo Salviati) -- Chapter 8. Biochemical diagnosis of mitocondrial disorders (Delia Yubero, Raquel Montero, Rafael Artuch) -- Chapter 9. Molecular genetics in the Next Generation Sequencing era (Joaquin Dopazo) -- Chapter 10. Model cells and organisms in mitochondrial diseases (Rhoda Stefanatos, Alberto Sanz, Daniel J M Fernandez-Ayala) -- Chapter 11. Therapies approaches in mitochondrial diseases (Valentina Emmanuele, Catarina M Quinzii, and Michio Hirano).
520 3 _aMitochondrial diseases comprise a clinically and genetically heterogeneous group of rare disorders that may affect virtually any system of the body at any age. Due to their complexity, understanding and diagnosing these diseases requires a multidisciplinary approach. This book provides an update on the major features of human mitochondrial diseases: genetic bases, pathophysiology, diagnosis, and treatment, and of the new technologies involved in the diagnosis and on the characterization of patients. The 11 chapters examine the unique complex interactions between the mitochondrial and the nuclear genomes involved in the biogenesis and the regulation of the mitochondrial respiratory chain, and their relevance to human disease. We discuss the traditional biochemical and genetic approaches, as well as the new omic technologies, and the cellular and animal models used in mitochondrial research. The last chapter is dedicated to the current treatment options. Authors are worldwide experts in these fields and integrate expertise in both basic science and clinical research. This book is particularly important for both scientists and clinicians interested in the diagnosis and treatment of these diseases.
988 _aSpringer_BiomedLife_2021
650 7 _2embne
_aMetabolismo
_xTrastornos
_9168790
700 1 _aNavas, Placido.
_eeditor literario
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aSalviati, Leonardo.
_eeditor literario
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
776 0 8 _iPrinted edition:
_z9783030701468
776 0 8 _iPrinted edition:
_z9783030701482
776 0 8 _iPrinted edition:
_z9783030701499
856 4 0 _uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-030-70147-5
_zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942 _2lcc
_cLE
998 _b02/2022
_dz
_eb
_zSI