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5-ht2b receptors : from molecular biology to clinical applications / / edited by Luc Maroteaux, Laurent Monassier
5-ht2b receptors : from molecular biology to clinical applications / / edited by Luc Maroteaux, Laurent Monassier
Edizione [1st ed. 2021.]
Pubbl/distr/stampa Cham, Switzerland : , : Springer, , [2021]
Descrizione fisica 1 online resource (VIII, 401 p. 44 illus.)
Disciplina 612.8042
Collana The Receptors
Soggetto topico Neurosciences
Human physiology
Receptors de serotonina
Fisiologia humana
Neurociències
Soggetto genere / forma Llibres electrònics
ISBN 3-030-55920-3
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Gene structure, expression, and 5-HT2B receptor signaling.-Serotonin function during embryonic development: the 5-HT2B receptor contribution -- Stem cells to decipher the physiological roles of 5-HT2B receptor signaling.-The serotonergic system in hematopoiesis and hematopoietic disorders -- The 5-HT2B receptor, the immune system and neuroinflammation.-5-HT2B Receptor on Macrophages: What for?.-Bone and 2B Serotonin receptor.-Roles of 5-HT2B receptor in pain -- 5-HT2B receptor, the heart and blood vessels.-5-HT2B receptor in Cardiopulmonary Disease -- Serotonin and cardiac Valves Degeneration in dog -- The discovery of 5-HT2B receptor pharmacology through the understanding of drug- induced valvulopathy -- Serotonin and fibrosis -- 5-HT2B receptors in liver -- Metabolic Regulation: Insulin secretion and action -- Drugs of abuse affecting 5-HT2B receptors.-The Role of 5-HT2B receptor on Aggression and Drugs of Abuse -- Role of the serotonin 2B receptor in the reinforcing effects of psychostimulants -- Serotonin 2B receptor interactions with dopamine network: implications for therapeutics in schizophrenia -- A Role for the 5-HT2B receptor in the Neurobiology of Schizophrenia -- 5-HT2B receptors and antidepressants -- Serotonin and the 5-HT2B receptor in amyotrophic lateral sclerosis.
Record Nr. UNINA-9910484526703321
Cham, Switzerland : , : Springer, , [2021]
Materiale a stampa
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Aging mechanisms II : longevity, metabolism, and brain aging / / Nozomu Mori, editor
Aging mechanisms II : longevity, metabolism, and brain aging / / Nozomu Mori, editor
Pubbl/distr/stampa Singapore : , : Springer, , [2022]
Descrizione fisica 1 online resource (429 pages)
Disciplina 612.67
Soggetto topico Aging - Physiological aspects
Longevity
Longevitat
Vellesa
Fisiologia humana
Soggetto genere / forma Llibres electrònics
ISBN 981-16-7976-2
981-16-7977-0
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Intro -- Preface -- Contents -- Contributors -- Part I: From Hypothesis to Mechanisms -- Chapter 1: An Unsolved Problem in Gerontology Yet: Molecular Mechanisms of Biological Aging-A Historical and Critical Overview -- 1.1 Introduction -- 1.2 The Definition of Aging -- 1.3 Aging Theories -- 1.4 Mutation Theory of Aging/Genome Instability Theory of Aging -- 1.5 Free Radical Theory of Aging/Oxidative Stress Theory of Aging -- 1.6 The Mitochondrial Theory of Aging -- 1.7 The Error Catastrophe Theory of Aging -- 1.8 The Altered Protein Theory of Aging/Protein Homeostasis or Proteostasis Theory of Aging -- 1.9 Dysdifferentiation Theory of Aging/Epigenetic Theory of Aging -- 1.10 The Hyperfunction Theory of Aging -- 1.11 Summary and Perspectives -- References -- Part II: Human Longevity: Accelerated Aging and Centenarians -- Chapter 2: Clinical and Basic Biology of Werner Syndrome, the Model Disease of Human Aging -- 2.1 Clinical Features and Pathogenesis of Werner Syndrome -- 2.1.1 Introduction -- 2.1.2 Diagnostic Criteria -- 2.1.3 Werner Syndrome Registry -- 2.1.3.1 General Information -- Age at Onset and Diagnosis -- Physique -- Life Expectancy -- Laboratory Test -- 2.1.3.2 Symptoms -- Sarcopenia -- Diabetes -- Dyslipidemia -- Fatty Liver -- Atherosclerosis -- Malignancy -- Osteoporosis -- Skin Ulcers -- Infection -- Calcification in Tendons -- 2.2 Basic Research and Molecular Mechanisms of Werner Syndrome -- 2.2.1 Werner Gene and Protein -- 2.2.2 WRN and DNA Damage Repair -- 2.2.3 WRN and Telomeres -- 2.2.4 WRN and Mitochondria, mTOR, and Autophagy -- 2.2.5 Phenotype of WRN KO Mice -- 2.2.6 WRN and Stem Cell Senescence and Epigenome Regulation -- 2.2.7 WS Patient-Derived iPS Cells -- 2.2.8 Malignancy and WRN -- 2.3 Conclusion -- References -- Chapter 3: Biomarkers of Healthy Longevity: Lessons from Supercentenarians in Japan -- 3.1 Introduction.
3.2 Demography and Functional Status of Supercentenarians -- 3.3 Cardiovascular Biomarkers and Exceptional Survival -- 3.4 Adiponectin -- 3.5 Immunological Biomarkers of Healthy Longevity -- 3.6 Future Prospects -- References -- Part III: Cellular Aging and Lower Animal Models -- Chapter 4: Cellular Aging and Metabolites in Aging -- 4.1 Introduction -- 4.2 Historical Theory and Replicative Senescence -- 4.3 Telomere-Dependent and Telomere-Independent Senescence -- 4.4 Double-Edged Sword of SIS -- 4.5 Senescence Markers -- 4.6 The Aging Hypothesis Relevant to Metabolic Profiles -- 4.7 Metabolomic Approach for Human Whole Blood -- 4.8 Blood Metabolites for Aging Markers -- 4.9 Blood Metabolites for Fasting Markers -- 4.10 Frailty Markers for Antioxidation, Cognition, and Mobility -- 4.11 Summary -- References -- Chapter 5: To G0 or Not to G0: Cell Cycle Paradox in Senescence and Brain Aging -- 5.1 Alzheimer´s Disease -- 5.2 Cellular Senescence -- 5.3 Cellular Senescence in Post-mitotic Cells -- 5.4 Proteostasis Failure as a Driver of Neuronal Senescence -- 5.5 Neuronal Senescence: Pleiotropic Response -- 5.6 Conclusion -- References -- Chapter 6: C. elegans Longevity Genes -- 6.1 Caenorhabditis elegans -- 6.2 Methodology -- 6.3 Aging Phenotype -- 6.4 Longevity Genes -- References -- Chapter 7: Understanding the Functions of Longevity Genes in Drosophila -- 7.1 Drosophila melanogaster as a Model System to Study Aging -- 7.1.1 Antioxidant -- 7.1.1.1 Cytoplasmic SOD (Sod1) -- 7.1.1.2 Mitochondrial SOD (Sod2) -- 7.1.1.3 Extracellular SOD (Sod3) -- 7.1.1.4 Catalase (Cat) -- 7.1.1.5 Thioredoxin (Trx-2, TrxT, dhd) -- 7.1.2 Insulin/IGF-1TOR Pathway -- 7.1.3 JNK Signaling Pathway -- 7.1.4 Epigenetic Mechanism -- 7.2 Epigenetic Inheritance of Longevity -- References -- Part IV: Metabolism: Factors Affecting Tissue Aging -- Chapter 8: NAD+ Metabolism in Aging.
8.1 Introduction -- 8.2 NAD+ Biosynthesis -- 8.3 NAD+ Consumption -- 8.4 NAD+ Levels Decline with Age -- 8.5 Effects of Age-Related NAD+ Decline on Hallmarks of Aging -- 8.6 Role of NAD+ in Age-Associated Functional Decline of Organs -- 8.6.1 Liver -- 8.6.2 Adipose Tissue -- 8.6.3 Skeletal Muscle -- 8.6.4 Kidney -- 8.7 NAD+ Precursors for Restoring NAD+ Levels in Animals and Humans -- 8.8 Conclusions -- References -- Chapter 9: Mitochondrial Dysfunction and Growth Differentiation Factor 15 in Aging -- 9.1 Introduction -- 9.2 GDF15 as a Marker for Mitochondrial Dysfunction and Mitochondrial Diseases -- 9.2.1 Cybrid Cells with Pathogenic mtDNA Mutations -- 9.2.2 Energy Metabolism in Cybrid Cells with Mitochondrial Dysfunction -- 9.2.3 Transcriptional Response to Impaired Energy Metabolism in Cybrid Cells -- 9.2.4 GDF15 as a Marker for Mitochondrial Dysfunction -- 9.2.5 GDF15 as a Biomarker for Mitochondrial Diseases -- 9.3 GDF15 and Aging -- 9.3.1 Characteristics of GDF15 -- 9.3.2 GDF15 Functions Through Its Specific Receptor GFRAL -- 9.3.3 Correlation of Circulating GDF15 Levels with Age -- 9.3.4 GDF15 and Adverse Outcomes in Older Adults -- 9.3.5 GDF15 and Age-Related Diseases -- 9.4 Discussion and Perspectives -- References -- Chapter 10: Sirtuins and Metabolic Health -- 10.1 Introduction -- 10.2 Sirtuins in Oxidative Stress and Mitochondrial Biogenesis (Fig. 10.1) -- 10.3 Sirtuins in Inflammation (Fig. 10.1) -- 10.4 Sirtuins in Autophagy (Fig. 10.1) -- 10.5 Sirtuins in Apoptosis (Fig. 10.1) -- 10.6 Interventions Targeting Sirtuins -- 10.7 Perspectives -- References -- Chapter 11: Autophagy in Aging and Longevity -- 11.1 Overview of Autophagy -- 11.2 Activation of Autophagy Is One of the Convergent Mechanisms of Animal Longevity -- 11.3 Autophagic Activity Declines with Age -- 11.4 Autophagy and Age-Related Neurodegenerative Diseases.
11.5 Molecular Mechanism Regulating Autophagy and Longevity -- 11.6 Intervention of Aging via Modulating Autophagy -- 11.7 Conclusion -- References -- Chapter 12: Sarcopenia: Current Topics and Future Perspective -- 12.1 What Is Sarcopenia? -- 12.2 How to Diagnose Sarcopenia -- 12.3 AWGS 2019 -- 12.4 Utilization of Phase Angle -- 12.5 Prevalence of Sarcopenia -- 12.6 Etiology of Sarcopenia -- 12.7 Genetics of Sarcopenia -- 12.8 Prognosis of Sarcopenia -- 12.9 Relationship Between Sarcopenia and Disease -- 12.10 Macroscopic Features of Age-Related Changes in Skeletal Muscle -- 12.11 Microscopic Features of Age-Related Changes in Skeletal Muscle -- 12.12 Prevention of Sarcopenia -- 12.13 Interventions for Sarcopenia -- 12.14 How to Provide Resistance Training -- 12.15 How to Provide Amino Acids and Protein for Persons with Sarcopenia -- 12.16 Pharmacological Treatment of Sarcopenia -- 12.17 Conclusions -- References -- Chapter 13: Osteoporosis and Cellular Senescence in Bone -- 13.1 Introduction -- 13.2 Role of Bone Cells and Age-Related Changes -- 13.3 Cellular Senescence in the Bone Microenvironment -- 13.4 Bone Phenotype in Animal Models of Accelerated Senescence -- 13.4.1 DNA Damage -- 13.4.2 Telomere Shortening -- 13.5 Cellular Senescence in Bone -- 13.6 Elimination of Senescent Cells in Bone Using Transgenic Mice -- 13.7 Senolytic and Senomorphic Approaches to Treating Osteoporosis -- 13.8 Summary -- References -- Chapter 14: Aging and Chronic Kidney Disease Viewed from the FGF-Klotho Endocrine System -- 14.1 Discovery of the Klotho Gene -- 14.2 Klotho Protein Function -- 14.3 Discovery of the FGF-Klotho Endocrine Axes -- 14.4 Phosphate and CKD -- 14.5 Phosphate Accelerates Aging -- 14.6 Calciprotein Particles (CPPs) -- 14.7 CPPs and Lipoproteins -- 14.8 Secreted αKlotho -- 14.9 FGF21-βKlotho Endocrine System -- 14.10 FGF21 and CKD.
14.11 Concluding Remarks -- References -- Chapter 15: Aging Biomarker SMP30 into a New Phase of Vitamin C and Aging Research -- 15.1 Introduction -- 15.2 Discovery of Age-Associated Protein SMP30 -- 15.3 Functional Analysis of SMP30 -- 15.4 SMP30 as an Organophosphatase -- 15.5 SMP30 Homolog in Fireflies -- 15.6 SMP30 Deficiency -- 15.7 SMP30 Is a Gluconolactonase (GNL) -- 15.8 SMP30-Knockout Mice Are Unable to Synthesize Vitamin C -- 15.9 Vitamin C Deficiency Accelerates Aging -- 15.10 Rough Estimation of Vitamin C Level That Accelerates Human Aging -- 15.11 Currently Available Findings Using SMP30-Knockout Mice -- 15.12 Perspectives of Vitamin C and Aging Research Using SMP30-Knockout Mice -- References -- Part V: Aging Brain: Cognitive Decline, Synaptic Plasticity -- Chapter 16: Age-Related Memory Impairments Are Caused by Alterations in Glial Activity at Old Ages -- 16.1 Associative Memory in Drosophila and the Effects of Aging on Memory -- 16.2 Age-Related Impairments in MTM -- 16.3 Age-Related Impairments in LTM -- 16.4 Defects in Neuron-Glia Interactions in Mammalian Models -- References -- Chapter 17: Critical Roles of Glial Neuroinflammation in Age-Related Memory Decline -- 17.1 Introduction -- 17.2 Age-Related Cognitive Decline in Animal Models -- 17.2.1 Cognitive Declines in Animal Model for Vascular Dementia -- 17.2.2 Memory Declines in Mouse Model for Alzheimer´s Disease -- 17.3 Critical Roles of Neuroinflammation in Age-Related Cognitive declines -- 17.3.1 Glial Neuroinflammation -- 17.3.2 Neuroinflammation at the Cerebrovascular Unit -- 17.4 Age-Related Cognitive Decline in Elderly Individuals -- 17.5 Conclusion -- References -- Chapter 18: Central Mechanisms Linking Age-Associated Physiological Changes to Health Span Through the Hypothalamus -- 18.1 Introduction.
18.2 Molecules and Signaling Pathways in the Hypothalamus that Control Mammalian Longevity.
Record Nr. UNINA-9910743231703321
Singapore : , : Springer, , [2022]
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Anorectal Physiology : A Clinical and Surgical Perspective / / edited by Lucia Camara Castro Oliveira
Anorectal Physiology : A Clinical and Surgical Perspective / / edited by Lucia Camara Castro Oliveira
Edizione [1st ed. 2020.]
Pubbl/distr/stampa Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020
Descrizione fisica 1 online resource (XXIII, 516 p. 354 illus., 276 illus. in color.)
Disciplina 616.35
611.35
Soggetto topico Proctology
Colon (Anatomy) - Surgery
Gynecology
Human physiology
Gastroenterology
Colorectal Surgery
Human Physiology
Recte
Fisiologia humana
Malalties del còlon
Cirurgia colorectal
Proctologia
Soggetto genere / forma Llibres electrònics
ISBN 3-030-43811-2
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Anatomy of the anorectal region and pelvic floor -- Physiology of Continence and Defecation -- New concepts of anorectal anatomy, physiology and surgery according to the Integral System -- Clinical Evaluation of Continence and Defecation -- Introduction to Methods of Anorectal Physiology Evaluation -- Particulars of anal Manometry -- Endoanal, endovaginal and transperineal ultrasound -- Echodefecography: Technique and Clinical Application -- Cinedefecography -- MRI Defecography -- Neurophysiology of the Pelvic Floor -- Electromyography and Pudendal Nerve Terminal Motor Latency -- Anal Incontinence: Etiology and Clinical Treatment -- Anal incontinence: Minimally Invasive Options -- Stem cells: the state of cellular therapy in treatment of fecal incontinence -- Surgical Treatment of Fecal Incontinence -- Complex Procedures for Fecal Incontinence -- Constipation -- Obstructed Defecation Syndrome -- Defecation disorders in children and adolescents -- Anal Manometry and Chagasic colopathy -- New Functional Concepts of Chagas Disease -- Functional Aspects of Diabetes and Collagenosis -- Solitary Rectal Ulcer Syndrome.-Multiple Approaches for the Treatment of Rectoceles -- Rectal Prolapse -- Enterocele: Diagnosis and treatment -- Ventral Rectopexy: Indications, Surgical Considerations and Outcomes -- Pudendal neuropathy and pudendal canal decompression -- Anorectal and pelvic floor pain syndromes -- Neurogenic Bowel and Bladder Dysfunction -- Anorectal Physiology in Low Rectal Resection Syndrome -- Treatment of the low anterior resection syndrome -- Pelvic Floor Rehabilitation -- Biofeedback -- Sacral neuromodulation -- Sacral Neuromodulation for Anorectal Dysfunction -- Technical Aspects of Sacral Neuromodulation -- Posterior Tibial Nerve Stimulation -- Pelvic Floor Dysfunction.
Record Nr. UNINA-9910416134503321
Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020
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Aquaporins / / edited by Baoxue Yang
Aquaporins / / edited by Baoxue Yang
Edizione [2nd ed. 2023.]
Pubbl/distr/stampa Singapore : , : Springer Nature Singapore : , : Imprint : Springer, , 2023
Descrizione fisica 1 online resource (362 pages)
Disciplina 572.696
Collana Advances in Experimental Medicine and Biology
Soggetto topico Pharmacology
Proteins
Human physiology
Biological transport
Cell membranes
Protein Biochemistry
Human Physiology
Membrane Trafficking
Proteïnes de membrana
Fisiologia humana
Soggetto genere / forma Llibres electrònics
ISBN 9789811974151
9789811974144
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto 1. Classification and Gene Structure of Aquaporins -- 2. Protein Structure and Modification of Aquaporins -- 3. Expression Regulation and Trafficking of Aquaporins -- 4. Transport Characteristics of Aquaporins -- 5. Non-transport Functions of Aquaporins -- 6. The Evolutionary Aspects of Aquaporin Superfamily -- 7. Aquaporins in Nervous System -- 8. Aquaporins in Cardiovascular System -- 9. Aquaporins in Respiratory System -- 10. Aquaporins in Digestive System -- 11. Aquaporins in Urinary System -- 12. Aquaporins in Reproductive System -- 13. Aquaporins in Immune System.-14. Aquaporins in Eye -- 15. Aquaporins in Skin -- 16. Aquaporins in Glandular Secretion -- 17. Aquaporins in Fetal Development -- 18. Aquaporins in Diabetes Insipidus -- 19. Aquaporins in Edema -- 20. Aquaporins in Obesity.-21. Aquaporins in Tumor -- 22. Aquaporin Inhibitors -- 23. Non-aquaporin Water Channels.-24. Methods to Measure Water Permeability.
Record Nr. UNINA-9910647393303321
Singapore : , : Springer Nature Singapore : , : Imprint : Springer, , 2023
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The Biochemistry of Retinoid Signaling III : Vitamin A and Retinoic Acid in Embryonic Development / / edited by Mary Ann Asson-Batres, Cecile Rochette-Egly
The Biochemistry of Retinoid Signaling III : Vitamin A and Retinoic Acid in Embryonic Development / / edited by Mary Ann Asson-Batres, Cecile Rochette-Egly
Edizione [1st ed. 2020.]
Pubbl/distr/stampa Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020
Descrizione fisica 1 online resource (VII, 229 p. 42 illus., 38 illus. in color.)
Disciplina 612.399
Collana Subcellular Biochemistry
Soggetto topico Human physiology
Nutrition
Embryology
Physiology
Human Physiology
Retinoides
Vitamina A
Embriologia
Fisiologia humana
Soggetto genere / forma Llibres electrònics
ISBN 3-030-42282-8
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Chapter 1. How Dietary Deficiency Studies have Illuminated the Many Roles of Vitamin A during Development and Postnatal Life -- Chapter 2. Maternal-fetal Transfer of Vitamin A and its Impact on Mammalian Embryonic Development -- Chapter 3. Retinoic Acid-Regulated Target Genes during Development: Integrative Genomics Analysis -- Chapter 4. RA Signaling in Limb Development and Regeneration in Different Species -- Chapter 5. Retinoic Acid Signaling and Heart Development -- Chapter 6. Retinoic Acid Signaling and Development of the Respiratory System -- Chapter 7. Retinoic Acid Signaling and Zebrafish Dentition during Development and Evolution -- Chapter 8. Fetal Alcohol Spectrum Disorder: Embryogenesis under Reduced Retinoic Acid Signaling Conditions.
Record Nr. UNINA-9910409699203321
Cham : , : Springer International Publishing : , : Imprint : Springer, , 2020
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Brain and Heart Crosstalk / / edited by Hemanshu Prabhakar, Indu Kapoor
Brain and Heart Crosstalk / / edited by Hemanshu Prabhakar, Indu Kapoor
Edizione [1st ed. 2020.]
Pubbl/distr/stampa Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020
Descrizione fisica 1 online resource (140 pages)
Disciplina 612.8
Collana Physiology in Clinical Neurosciences – Brain and Spinal Cord Crosstalks
Soggetto topico Neurosciences
Human physiology
Neurology
Neurobiology
Human Physiology
Neurociències
Cor
Fisiologia humana
Soggetto genere / forma Llibres electrònics
ISBN 981-15-2497-1
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Chapter 1. Neurophysiology of Heart -- Chapter 2. Physiology of Cardiovascular System -- Chapter 3. THE Brain-Heart Crosstalk. .
Record Nr. UNINA-9910409683303321
Singapore : , : Springer Singapore : , : Imprint : Springer, , 2020
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Fundamentals of biomechanics / / Duane Knudson
Fundamentals of biomechanics / / Duane Knudson
Autore Knudson Duane V. <1961->
Edizione [3rd ed. 2021.]
Pubbl/distr/stampa Cham, Switzerland : , : Springer, , [2021]
Descrizione fisica 1 online resource (XI, 252 p. 149 illus., 141 illus. in color.)
Disciplina 612
Soggetto topico Human physiology
Biomecànica
Fisiologia humana
Soggetto genere / forma Llibres electrònics
ISBN 3-030-51838-8
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Part I: Introduction -- Introduction to Biomechanics of Human Movement -- Fundamentals of Biomechanics and Qualitative Analysis -- Part II: Biological/Structural Bases -- Anatomical Description and Its Limitations -- Mechanics of the Musculoskeletal System -- Part III: Mechanical Bases -- Linear and Angular Kinematics -- Linear Kinetics -- Angular Kinetics -- Fluid Mechanics -- Part IV: Applications of Biomechanics in Qualitative Analysis -- Applying Biomechanics in Physical Education -- Applying Biomechanics in Coaching -- Applying Biomechanics in Strength and Conditioning -- Applying Biomechanics in Sports Medicine and Rehabilitation -- Appendices -- Index.
Record Nr. UNINA-9910728398703321
Knudson Duane V. <1961->  
Cham, Switzerland : , : Springer, , [2021]
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Human physiology
Human physiology
Pubbl/distr/stampa [Moscow, Russia], : MAIK Nauka/Interperiodica
Disciplina 612
Soggetto topico Human physiology
Physiology
Physiologie humaine
Physiologie
physiology
Fisiologia humana
Soggetto genere / forma Periodicals.
Revistes electròniques.
ISSN 1608-3164
Formato Materiale a stampa
Livello bibliografico Periodico
Lingua di pubblicazione eng
Record Nr. UNINA-9910145101003321
[Moscow, Russia], : MAIK Nauka/Interperiodica
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JIMD Reports, Volume 15 / / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
JIMD Reports, Volume 15 / / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
Edizione [1st ed. 2015.]
Pubbl/distr/stampa Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015
Descrizione fisica 1 online resource (133 p.)
Disciplina 616.39042
Collana JIMD Reports
Soggetto topico Human genetics
Metabolism - Disorders
Pediatrics
Human physiology
Human Genetics
Metabolic Diseases
Human Physiology
Genètica humana
Trastorns del metabolisme
Pediatria
Fisiologia humana
Soggetto genere / forma Llibres electrònics
ISBN 3-662-43751-1
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto ""Contents""; ""4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Results""; ""Assay Performance""; ""4OHGlu Levels in Controls and PH3 Families""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Author Contributions""; ""Conflicts of Interest""; ""Ethical Approval""; ""References""; ""Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood""; ""Abstract""; ""Introduction""; ""Patient and Methods""; ""Procedure""; ""Results""; ""Discussion""; ""Synopsis""
""Compliance with Ethics and Guidelines""""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""Details of the Contributions of Individual Authors""; ""References""; ""Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment""; ""Abstract""; ""Introduction""; ""Methods""; ""Results""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Details of the Contributions of Individual Authors""; ""References""
""Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests ...""""Abstract""; ""Introduction""; ""Subjects and Methods""; ""Results""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Synopsis""; ""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""Details of the Contributions of Individual Authors""; ""Electronic-Database Information""; ""References""; ""Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural Histo...""; ""Abstract""
""Introduction""""Patients""; ""Patient 1 (Fig.1; II-3)""; ""Patient 2 (Fig.1; II-4)""; ""Biochemical Phenotype and Genotype""; ""Treatments""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Synopsis""; ""Conflict of Interest""; ""Ethics Approval""; ""PatientÂ?s Informed Consent""; ""Animal Rights""; ""AuthorsÂ? Contribution""; ""References""; ""Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations""; ""Abstract""; ""Introduction""; ""Methods""; ""Results""; ""Literature Search""
""Pharmacotherapy: Recommendation""""Add-on Dietary Treatment: General Recommendations and Rationale""; ""Recommendations (Fig.2)""; ""Rationale""; ""Diet Prescriptions (See Online Supplement for More Details)""; ""Nutritional Aims""; ""Diet Management in (Breastfed) Infants""; ""Assessment of Lysine Content""; ""Lysine-Free Amino Acid Formulas""; ""Monitoring""; ""Clinical Monitoring""; ""Biochemical and Routine Laboratory Monitoring""; ""Nutritional Markers""; ""Neurological Monitoring""; ""Neurodevelopmental Monitoring""; ""Neuro-Radiological Monitoring""; ""Emergency Treatment""
""Discussion""
Record Nr. UNINA-9910300209903321
Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015
Materiale a stampa
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JIMD Reports, Volume 18 / / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
JIMD Reports, Volume 18 / / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
Edizione [1st ed. 2015.]
Pubbl/distr/stampa Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015
Descrizione fisica 1 online resource (138 p.)
Disciplina 616.39042
Collana JIMD Reports
Soggetto topico Human genetics
Metabolism - Disorders
Pediatrics
Human physiology
Human Genetics
Metabolic Diseases
Human Physiology
Genètica humana
Trastorns del metabolisme
Pediatria
Fisiologia humana
Soggetto genere / forma Llibres electrònics
ISBN 3-662-44863-7
Formato Materiale a stampa
Livello bibliografico Monografia
Lingua di pubblicazione eng
Nota di contenuto Contents; Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome); Abstract; Introduction; Methods; Data Source for Integrated Height Analysis; Definitions of Slowly and Rapidly Progressive Disease; Laboratory Assessments; Statistical Methods; Results; Demographics; MPS VI Growth Curves; Growth of Rapidly and Slowly Progressing MPS VI Patients; MPS VI Growth Charts and Z-Scores for Rapidly and Slowly Progressing MPS VI Patients; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Patient Consent Statement
Contributions of Individual AuthorsReferences; Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Beha...; Abstract; Introduction; Methods; Sample; HCPs; Patients; Procedure; Qualitative Research; Quantitative Research; Results; Sample Characteristics; Psychological Well-Being and Social Support; Relationship with HCPs; Perceptions of Illness and Treatment; Adherence; Factors Associated with Adherence to Diet and Medication; Illness Experience and Perceptions; Treatment Perceptions and Experiences
Patient and Family FactorsDiscussion; Recommendations and Conclusions; Disclaimer; Source of Support; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; References; Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I; Abstract; Introduction; Methods; Results; Discussion; Take Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Financial Disclosure; Other Relationships; Ethics Approval; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors
ReferencesProteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease; Abstract; Introduction; Materials and Methods; Chemicals and Antibodies; Cell Cultures; Western Blot Analysis; Immunocytochemistry; Site-Directed Mutagenesis and Expression of Mutated GAA in HEK293T Cells; Quantitative Analyses of Proteins and GAA Activity; Results; Bortezomib Improves the Activity of Several Mutant GAAs in Fibroblasts from Patients with Pompe Disease
Bortezomib Improves the Maturation and Intracellular Localization of Mutant GAAs in Patient Fibroblasts Carrying M519V and C64...Bortezomib Increases the Activity of Several Mutant GAAs in HEK293T Cells; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Disclosures; Informed Consent; Animal Rights; Contribution; References; Cognitive Function in Adults Aging with Fabry Disease: A Case-Control Feasibility Study Using Telephone-Based Assessments; Abstract; Introduction; Methods; Participants and Procedures; Participants with Fabry Disease; Control Participants
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Record Nr. UNINA-9910300221603321
Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015
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