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Genetic polymorphism and cancer susceptibility / / Aga Syed Sameer, Mujeeb Zafar Banday, Saniya Nissar, editors
| Genetic polymorphism and cancer susceptibility / / Aga Syed Sameer, Mujeeb Zafar Banday, Saniya Nissar, editors |
| Pubbl/distr/stampa | Singapore : , : Springer, , [2021] |
| Descrizione fisica | 1 online resource (353 pages) |
| Disciplina | 616.9940072 |
| Soggetto topico |
Cancer - Research
Genètica humana Càncer |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 981-336-699-0 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910484965303321 |
| Singapore : , : Springer, , [2021] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Genome-Wide Association Studies [[electronic resource] /] / edited by Tatsuhiko Tsunoda, Toshihiro Tanaka, Yusuke Nakamura
| Genome-Wide Association Studies [[electronic resource] /] / edited by Tatsuhiko Tsunoda, Toshihiro Tanaka, Yusuke Nakamura |
| Edizione | [1st ed. 2019.] |
| Pubbl/distr/stampa | Singapore : , : Springer Singapore : , : Imprint : Springer, , 2019 |
| Descrizione fisica | 1 online resource (216 pages) : color illustrations |
| Disciplina |
611.01816
599.935 |
| Soggetto topico |
Human genetics
Cancer research Immunology Human Genetics Cancer Research Genètica humana |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 981-13-8177-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Genotyping and Statistical Analysis -- Genetics of coronary artery disease -- Genetic and Functional Genetics of Autoimmune Diseases -- Genome-Wide Association Study for Type 2 diabetes -- The association of single nucleotide polymorphisms with cancer risk -- Genetics of Infectious Diseases -- Pharmacogenomics -- The Future of and Beyond GWAS. |
| Record Nr. | UNINA-9910350352403321 |
| Singapore : , : Springer Singapore : , : Imprint : Springer, , 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Human population genomics : introduction to essential concepts and applications / / Kirk E. Lohmueller, Rasmus Nielsen, editors
| Human population genomics : introduction to essential concepts and applications / / Kirk E. Lohmueller, Rasmus Nielsen, editors |
| Edizione | [1st ed. 2021.] |
| Pubbl/distr/stampa | Cham, Switzerland : , : Springer, , [2021] |
| Descrizione fisica | 1 online resource (IX, 234 p. 51 illus., 20 illus. in color.) |
| Soggetto topico |
Xenética humana
Genètica humana |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-030-61646-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Intro -- Preface -- Contents -- Part I Population Genetic Theory -- 1 Coalescent Models -- 1.1 Aims and Clarifications -- 1.2 Introduction: Gene Genealogies Within a Population or Species -- 1.2.1 Organismal Pedigrees and Gene Genealogies -- 1.3 The Standard Neutral Model: The Kingman Coalescent -- 1.3.1 The Sampling Structure of Coalescent Gene Genealogies -- 1.3.2 Including Mutations in the Coalescent -- 1.4 Fundamental Predictions for Single Loci in Well-Mixed Populations -- 1.4.1 The Size and Shape of a Gene Genealogy -- 1.4.2 Levels and Patterns of Genetic Variation -- 1.4.3 Tests of the Standard Neutral Coalescent Based on Site Frequencies -- 1.5 Extensions of the Standard Model -- 1.5.1 Fluctuations in Population Size over Time -- 1.5.2 Population Subdivision and Migration -- 1.6 Conclusion: Current Challenges of Big Data -- References -- 2 Linkage Disequilibrium -- 2.1 Introduction -- 2.2 Tests of whether D == 0 -- 2.3 More than Two Alleles per Locus -- 2.4 More than Two Loci: Haplotype Blocks and the HapMap Project -- 2.5 Dynamics of D -- 2.6 Genetic Drift and LD -- 2.7 Genealogical Interpretation of LD -- 2.8 Natural Selection and LD -- 2.9 Genetic Hitchhiking -- 2.10 Population Subdivision -- 2.11 Conclusion -- References -- 3 Analysis of Population Structure -- 3.1 What Is Population Structure? -- 3.2 Individual-Based and Unsupervised Methods for Inferring Population Structure -- 3.2.1 Tree Construction Methods at the Individual Level -- 3.2.2 Principal Component Analysis and Related Approaches -- 3.2.3 Ancestry Component Estimation with Few Model Assumptions -- 3.3 Population-Based and Supervised Methods -- 3.3.1 Genetic Differentiation at the Population Level -- 3.3.1.1 FST -- 3.3.1.2 Other Measures of Genetic Distance -- 3.3.2 Formal Tests for Admixture Under a Population Tree-Model -- 3.3.3 More Advanced Modeling.
3.3.3.1 Population Graph Fitting -- 3.3.3.2 Isolation-Migration Models -- 3.3.3.3 Approximate Bayesian Computation -- 3.4 Summary and Guidelines -- References -- 4 Types of Natural Selection and Tests of Selection -- 4.1 Types of Selection and Their Effect on Linked Neutral Sites -- 4.1.1 Types of Selection -- 4.1.2 The Effect of Selection on Linked Neutral Sites -- 4.2 Tests of Selection -- 4.2.1 Tests of Selection Based on the Site Frequency Spectrum -- 4.2.1.1 Tajima's D -- 4.2.1.2 Fay and Wu's H -- 4.2.1.3 Likelihood Ratio Tests -- 4.2.2 Tests of Selection Based on Haplotypes -- 4.2.2.1 Extended Haplotype Homozygosity (EHH) -- 4.2.2.2 Integrated Haplotype Score (iHS) -- 4.2.2.3 Cross-Population EHH (XP-EHH) -- 4.2.3 Tests Based on both Diversity and Divergence:The McDonald-Kreitman Test -- 4.3 How to Choose a Specific Test of Selection? -- References -- Part II Association Studies and Medical Genetics -- 5 Methods for Association Studies -- 5.1 Introduction -- 5.2 Types of Association Studies -- 5.2.1 Candidate Gene Studies -- 5.2.2 Genome-Wide Association Studies -- 5.2.2.1 Background -- 5.2.2.2 Multistage Study Designs -- 5.2.2.3 Limitations -- 5.2.3 Mendelian Randomization -- 5.2.4 Transcriptome-Wide Association Studies -- 5.2.5 Replication and Meta-analysis -- 5.2.5.1 Replication -- 5.2.5.2 Meta-analysis -- 5.3 Design of Association Studies -- 5.3.1 Quantitative Versus Qualitative Traits -- 5.3.2 Subject Selection -- 5.3.3 Sample Size -- 5.4 Measurement of Genetic Information -- 5.4.1 Common Variants -- 5.4.2 Rare Variants -- 5.5 Data Analysis -- 5.5.1 Quality Control -- 5.5.2 Data Imputation -- 5.5.3 Analysis of Common Variants -- 5.5.4 Analysis of Rare Variants -- 5.5.5 Incorporating External Information into Association Study Analyses -- 5.5.5.1 Gene Set Analysis -- 5.5.5.2 Hierarchical Modeling -- 5.5.6 Interactions. 5.5.7 Incorporating Covariates -- 5.5.7.1 Population Stratification -- 5.5.7.2 Addressing Other Confounding -- 5.5.7.3 Improving Precision -- 5.5.8 Multiple Testing -- 5.5.8.1 Bonferroni and Number of Effective Independent Tests -- 5.5.8.2 Permutation Testing -- 5.5.8.3 False Discovery Rate -- 5.5.8.4 Bayesian Approach -- 5.6 Concluding Remarks -- References -- 6 Identity by Descent in the Mapping of Genetic Traits -- 6.1 Introduction -- 6.1.1 Identity by Descent -- 6.1.2 From Descent to Gene Mapping -- 6.1.3 Outline of the Chapter -- 6.2 Probabilities of IBD -- 6.2.1 IBD in Defined Relatives -- 6.2.2 IBD in Populations -- 6.2.3 Probabilities of Genotypic Data Given IBD -- 6.2.4 Probabilities of Phenotypic Data Given IBD -- 6.3 Inferring in Pedigrees and Populations -- 6.3.1 IBD Given Marker Data on Relatives -- 6.3.2 Monte Carlo Realization of IBD in Defined Pedigrees -- 6.3.3 Inference of Realized Kinship or Relatedness -- 6.3.4 IBD Given Marker Data in Populations -- 6.4 IBD-Based Genetic Mapping -- 6.4.1 Mapping from IBD in Pedigrees -- 6.4.2 IBD in Pedigree-Based Likelihoods -- 6.4.3 Mapping from IBD in Populations -- 6.4.4 Model-Based Mapping Likelihoods in Populations -- 6.5 Summary -- References -- 7 What Have We Learned from GWAS? -- 7.1 Introduction -- 7.2 Lessons over Eight Years of Association Studies (2006-2013) -- 7.2.1 Study Design, Quality Control, and the Search for Technical Biases -- 7.2.2 Addressing Confounding from Population Stratification -- 7.2.3 Threshold for Declaring Significant Genome-Wide Results -- 7.2.4 Best Practices for In Silico Statistical Imputation -- 7.2.5 Collecting Evidence Across Studies via Meta-Analysis -- 7.3 Uncovering the Biology and Architecture of Complex Traits -- 7.3.1 Complex Traits Are Differentially Complicated -- 7.3.2 The (Un)Explained Heritability for Complex Traits. 7.3.3 The Data Are Consistent with a Strong Polygenic Component -- 7.3.4 Complex Traits Share a Genetic Basis in Common Across Populations -- 7.3.5 The Identification of Unknown Mechanisms for Disease Pathogenesis -- 7.3.6 The Importance of Phenotypic Collection in Study Designs -- 7.3.7 Challenges with Interpreting the Distribution of Effects and Frequencies -- 7.3.8 Observational Epidemiology and Genetics Need Not Always Agree -- 7.4 What Lies Just Beyond the Horizon for GWAS? -- 7.4.1 Custom Genotyping Arrays Technologies for Genetic Studies -- 7.4.2 Analysis of Multiple Phenotypic Measurements and Outcomes -- 7.4.3 Genetic Fine Mapping for Complex Trait Loci -- 7.4.4 Genetic Studies of Complex Traits across Ethnicities -- 7.4.5 Integration of System-Based and "Omics" Approaches with Genetics -- 7.4.6 Uniting Findings from GWAS with Sequencing Studies -- 7.5 Closing Thoughts -- References -- Part III Human Evolutionary Population Genetics -- 8 Inferring Human Demographic History from Genetic Data -- 8.1 Introduction -- 8.2 Human Population Structure -- 8.3 Effective Population Size -- 8.4 Population Bottlenecks -- 8.5 Sex Ratio -- 8.6 Estimating Demographic Parameters -- 8.7 Ancient Admixture -- 8.8 Other Ancient DNA Studies -- 8.9 Conclusion -- References -- 9 Natural Selection, Genetic Variation, and Human Diversity -- 9.1 Introduction -- 9.2 Amount of Selection in the Human Genome -- 9.2.1 Balancing Selection -- 9.2.2 Negative Selection -- 9.2.3 Positive Selection -- 9.3 Demography and Selection -- 9.4 Empirical Studies of Positive Selection -- 9.4.1 Single Gene Studies -- 9.4.2 Genome-Wide Scans for Selection -- 9.4.2.1 Insights from Genome-Wide Scans -- 9.4.2.2 Improving Genome-Wide Scans -- 9.5 Selection and Population Differentiation -- 9.6 Conclusions -- References. |
| Record Nr. | UNINA-9910483981403321 |
| Cham, Switzerland : , : Springer, , [2021] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 15 [[electronic resource] /] / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports, Volume 15 [[electronic resource] /] / 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
Metabolic diseases 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 | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 18 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 18 [[electronic resource] /] / 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
Metabolic diseases 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 Measures |
| Record Nr. | UNINA-9910300221603321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 19 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 19 [[electronic resource] /] / 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 (122 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology Genètica humana Trastorns del metabolisme Pediatria Fisiologia humana |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-662-46190-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia; Abstract; Introduction; Methods; Study Volunteers; GALT Genotyping of DNA from the Child; GALT Genotyping of DNA from Both Parents; Affymetrix 6.0 Microarray Analysis of Genomic Markers in the Trio; Results; Case Report; Dideoxy Sequencing Reveals a Novel GALT Variant in a Child with Classic Galactosemia; Dideoxy Sequencing of Parental GALT Loci Coupled with Comprehensive Genomic SNP Analysis of the Trio Reveals that c.563A>C (p....; Discussion; 1-Sentence Synopsis
Compliance with Ethical GuidelinesConflict of Interest; Informed Consent; Animal Rights; Contributions of Each Author; References; Refsum Disease Presenting with a Late-Onset Leukodystrophy; Abstract; Discussion; One Sentence Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References; Making the White Matter Matters: Progress in Understanding Canavanś Disease and Therapeutic Interventions Through Eight Decad...; Abstract; Clinical Description Aspartoacylase: Biochemistry and GeneticsCharacterization of the Substrate; Theories Behind the Molecular Etiology of CD; Molecular Water Pump (MWP) and Osmolyte Imbalance Theory; Dysmyelination Theory; Deficiency of AspA-Derived Acetate Compromises Oligodendrocyte Differentiation; Protein Folding and Stabilization Theory; Oxidative Stress Theory; Treatment Strategies; Palliative Measures; Symptomatic Treatment of Disease; Addressing Elevated Substrate in the Context of Deficient Aspartoacylase; Addressing the Deficiency of the Enzyme Aspartoacylase Gene Therapy Using Gene Replacement StrategyPerspectives and Future Directions; One Sentence Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References; Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease; Abstract; Introduction; Methods; Participants; Procedure; Measures; Eating Disorders Inventory-3 (EDI-3); Eating Disorders Inventory-Child (EDI-C); Eating Attitudes Test (EAT); Childrenś Eating Attitude Test (ChEAT); Body Esteem Scale (BES) Body Esteem Scale for Children (BES-C)Open-Ended Interview; Data Analysis; Results; Bullying/Teasing; Weight; Height; Negative Body Image; Positive Body Image; Age-Related Acceptance; Discussion; Conclusions; Compliance with Ethics Guidelines; Synopsis; Conflict of Interest; Informed Consent; Author Contributions; References; One Year Experience of Pheburane (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency; Abstract; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Authors ́Contributions; References Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature |
| Record Nr. | UNINA-9910300178403321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 20 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 20 [[electronic resource] /] / 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 (120 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology Genètica humana Trastorns del metabolisme Pediatria Fisiologia humana |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-662-46700-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings; Abstract; Introduction; Subjects, Methods, and Results; Case 1; Case 2; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Statements; Details of the Contributions of Individual Authors; References; Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease; Abstract; Introduction; Methods; Patient Population; Questionnaire Details; Statistical Analysis; Results; Discussion; Conclusion; Synopsis; Compliance with Ethics Guidelines
Conflict of InterestReferences; Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature; Abstract; Introduction; Case Reports; Results and Discussion; Clinical and Laboratory Presenting Findings; Biochemical Findings; Mutational Findings; Long-Term Prognosis; Dietary Treatment and Monitoring; Final Considerations; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References Lack of Glibenclamide Response in a Case of Permanent Neonatal Diabetes Caused by Incomplete Inactivation of GlucokinaseAbstract; Introduction; Case History and Glibenclamide Treatment; Methods; Genetic Studies; Enzymatic Analysis of Wild-Type and Mutant GCK; Statistical Analysis; Results; Identification of GCK Mutations; Functional Characterisation of p.Ile19Asn Mutation; Glibenclamide Treatment; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions of Individual Authors; References Morphology and Function of Cerebral Arteries in Adults with Pompe DiseaseAbstract; Introduction; Patients and Methods; Patients; Gd-MRA; Sonography; Statistics; Informed Consent and Ethics; Results; Discussion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Individual Contributions; References; Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?; Abstract; Introduction; Patients and Methods; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contribution of the Authors; References Characterization of Variegate Porphyria Mutations Using a Minigene ApproachAbstract; Introduction; Materials and Methods; Patients; Constructs; Minigenes Expression Assays; Statistical Analysis; Bioinformatic Tools; Results; Discussion; Synopsis; Details of Contribution of Individual Authors; Conflict of Interest; Details of Funding; Details of Ethic Approval; References; Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disab...; Abstract; Introduction; Clinical Report; Patient 1; Patient 2; Methods; Array-CGH Molecular Investigations |
| Record Nr. | UNINA-9910300233803321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 21 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 21 [[electronic resource] /] / 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 (127 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology Genètica humana Trastorns del metabolisme Pediatria Fisiologia humana |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-662-47172-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB; Abstract; Introduction; Materials and Methods; Materials; Polymer KS; Subjects; Enzymes and Standard; Methods; Sample Preparation; Apparatus; Method Validation; Statistical Analysis; Results; Sulfation Pattern of KS; Calibration Curves; Precision and Accuracy; Analysis of Mono- and Di-sulfated KS; Blood Mono-sulfated KS: Galbeta14GlcNAc(6S); Blood Di-sulfated KS: Galbeta1(6S)4GlcNAc(6S); Correlation Between Mono-sulfated KS and Di-sulfated KS Levels in the Blood; Urine Mono-sulfated KS
Urine Di-sulfated KS Correlation Between Mono-sulfated KS and Di-sulfated KS Levels in the Urine; Discussion; Conclusions; Compliance With Ethical Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions to the Project; Highlights; References; Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada; Abstract; Introduction; Methods; Sample Selection and Survey Implementation; Questionnaire Content and Data Analysis; Results; Scope of Practice; Human Resources and Clinic Services; Research Capacity; Discussion Summary and Interpretation Limitations; Concise 1 Sentence Take-Home Message (Synopsis) of the Article, Outlining What the Reader Learns from the Article; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contributions; References; Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics; Abstract; Introduction; Methods; Participants; Evaluations; Clinical; Nutrition; Neuropsychological; Statistical Analyses; Results; Sample Demographics; Offspring Outcomes; Dysmorphology; Cognitive Functioning and Emotional Well-Being Maternal Outcomes Maternal Health and Nutrition; Maternal Cognitive and Emotional Outcomes; Correlations Between Offspring Outcome and Maternal Characteristics; Discussion; Conclusion; Compliance with Ethics Guidelines; Conflict of Interest; Author Contributions; References; Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edit...; Abstract; Introduction; Metabolic Disorders; Urea Cycle Disorders; Phenylketonuria (PKU); Galactosemia; Fatty Acid Oxidation Disorders; Instruments; Methods; Results; Discussion One-Sentence Synopsis Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contributions; References; Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients; Abstract; Introduction; Materials and Methods; Patient Enrollment; GCDH Gene Analysis; In Silico Analysis of Novel Mutations; Results; GCDH Gene Mutations; In Silico Analysis; Genotype and Biochemical Phenotype; Discussion; Clinical Spectrum; Mutation Spectrum; In Silico Analysis of Effect of Mutation on Their Structure; Biochemical, Genotype and Phenotype Correlation Conclusion |
| Record Nr. | UNINA-9910300166303321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 22 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 22 [[electronic resource] /] / 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 (121 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology Genètica humana Trastorns del metabolisme Pediatria Fisiologia humana |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-662-47453-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Innate and Adaptive Immune Response in Fabry Disease; Abstract; Introduction; Proinflammatory Pattern in Naive-Treatment FD Patients; Immune Adaptive Responses Against Agalsidase in Fabry Disease; Conclusion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References; Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism; Abstract; Introduction; Case Report; Discussion; Take-Home Message; Conflict of Interest; Informed Consent; Authors ́Contributions; References
Occurrence of Malignant Tumours in the Acute Hepatic PorphyriasAbstract; Introduction; Material and Methods; Patients and Questionnaire; Incidence and Prevalence of AHP and Relative Risk of HCC; Results; Questionnaire; Malignant Tumours; Incidence of AHP; Prevalence of AHP; Relative Risk of Developing HCC; Discussion; Synopsis; Author Contribution; Compliance with Ethics Guidelines; Conflict of Interest; References; Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide; Abstract; Introduction; Case Report; Results; Discussion; Synopsys Compliance with Ethics GuidelinesConflict of Interest; Informed Consent; Author Contributions; References; Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium; Abstract; Introduction; Methods and Results; The Network ; The Patient Registry; Dissemination; Guideline Development; Evaluation; Discussion; Project Funding Mechanism; Ethical Review Process; Guidelines for Rare Diseases; Looking Forward: Towards a European Reference Network for Inherited Metabolic Diseases; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Informed ConsentDetails of the Contributions of Individual Authors; Animal Rights; References; Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy; Abstract; Introduction; Material and Methods; Molecular Studies; DNA Analysis; cDNA Analysis; Fibroblast Culture; Results; Mutation Analysis; Q39Lfs*14 Mutation Leads to Partial Nonsense-Mediated Decay in Fibroblasts; Discussion; Synopsis; Details of the Contributions of Individual Authors; Name of One Author Who Serves as Guarantor; Conflict of Interest; Compliance with Ethics Guidelines; References Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsatur...Abstract; Introduction; Methods; Neurotransmitter Analysis in CSF; Molecular Analysis; GC-MS PUFA Analysis; Case Story; PUFA Analysis; Discussion; Conclusion; Take-Home Message; Disclosure; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms; Abstract; Introduction Design and Methods |
| Record Nr. | UNINA-9910300173903321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 23 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
| JIMD Reports, Volume 23 [[electronic resource] /] / 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 (128 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology Genètica humana Trastorns del metabolisme Pediatria Fisiologia humana |
| Soggetto genere / forma | Llibres electrònics |
| ISBN | 3-662-47467-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Contents; Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed i...; Abstract; Introduction; Materials and Methods; Cloning and Mutagenesis; Cell Cultures and Growth Media; Results and Discussion; Effect of Carbon Sources upon the Growth of Non-transformed and Wild-Type hGALT-Transformed E. coli DeltagalT; Galactose Sensitivity of Bacteria Expressing Different hGALT Variants; Arginine Rescue of the hGALT Variants; Conclusion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent
Animal RightsContributions; References; Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Ag...; Abstract; Introduction; Patients and Methods; Treatment Protocol Design and Data Collection; Clinical and Pharmacodynamic Parameters; Data and Statistical Analyses; Results; Safety and Tolerability; Immunogenicity and Other Safety Parameters; Renal Function and Cardiac Structure/Function; Plasma and Urine Biomarkers; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Patient Consent Statement Details of the Contributions of Individual AuthorsReferences; Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5α,6beta-Triol and Further Insight into t...; Abstract; Introduction; Materials and Methods; LC-MS/MS; GC/MS; Mutation Analysis; Filipin Staining; Chitotriosidase Activity; Results; Case Reports; Patient 1; Patient 2; Patient 3; Discussion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References The Modulatory Effects of the Polymorphisms in GLA 5-Untranslated Region Upon Gene Expression Are Cell-Type SpecificAbstract; Introduction; Materials and Methods; Synopsis of the Laboratory Protocol; Statistical Analyses; Results; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Declaration; References; The Kuvan Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in ...; Abstract; Introduction; Methods; Study Design; Study Population; Study Variables; Assessments; Study Size; Minimizing Bias Statistical AnalysesResults; Patients; BH4 Responsiveness; Safety; Sapropterin Treatment; Blood Phenylalanine Concentrations at Baseline, 6 Months and 12 Months; Natural Protein and Actual Phenylalanine Intake at Baseline, 6 Months and 12 Months; Growth; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Informed Consent; Contributions of Individual Authors; References; Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease; Abstract; Introduction; Materials and Methods; Results; Patient 1; Postmortem Examination Smooth Muscle |
| Record Nr. | UNINA-9910300174003321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Soggetto topico
-
Genètica humana
(21)
- Human genetics (12)
- Human Genetics (11)
- Fisiologia humana (7)
- Human Physiology (7)