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JIMD Reports - Volume 12 / / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports - Volume 12 / / edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Cham : , : Springer International Publishing : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (130 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Human physiology Human Genetics Metabolic Diseases Human Physiology |
| ISBN | 3-319-03461-8 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
""Contents""; ""Propionic Acidemia and Optic Neuropathy: A Report of Two Cases""; ""Abstract""; ""Introduction""; ""Case Reports""; ""Discussion""; ""Synopsis""; ""References""; ""Chronic Kidney Disease in an Adult with Propionic Acidemia""; ""Abstract""; ""Introduction""; ""Methods and Results""; ""Clinical Summary""; ""Renal Evaluation""; ""Summary and Discussion""; ""Synopsis""; ""References""; ""Transient Massive Trimethylaminuria Associated with Food Protein-Induced Enterocolitis Syndrome""; ""Abstract""; ""Introduction""; ""Case Presentation""; ""Discussion""; ""Synopsis""
""References""""Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation""; ""Abstract""; ""Introduction""; ""Methods""; ""Study Design and Population""; ""Statistical Analysis""; ""Results""; ""Discussion""; ""Study Limitations""; ""Conclusion""; ""Contribution""; ""Disclosures""; ""References""; ""Niemann-Pick Disease Type C: New Aspects in a Long Published Family - Partial Manifestations in Heterozygotes""; ""Abstract""; ""Introduction""; ""Case Report""; ""Genetic Testing""; ""Results and Discussion""; ""Synopsis"" ""Compliance with Ethics Guidelines""""References""; ""Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome""; ""Abstract""; ""Introduction""; ""Clinical Description""; ""Discussion""; ""Take-Home Messages""; ""References""; ""A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Clinical Data""; ""Enzyme Measurements""; ""SNP Array Analysis and Homozygosity Mapping""; ""Mutation Analysis""; ""Blue Native, SDS-PAGE, and In-Gel Activity Assays"" ""Antibodies and ECL Detection""""Lentiviral Complementation of Patient Fibroblasts""; ""Riboflavin Treatment of Patient Cells""; ""Modeling""; ""Results""; ""Enzyme Measurements and Gel Analyses""; ""Gene and Conservation Analyses""; ""Modeling of the p.Ala220Val Mutation""; ""Functional Complementation""; ""Riboflavin Treatment of Fibroblasts""; ""Discussion""; ""Take-Home Message""; ""References""; ""Pulmonary Manifestations in a Patient with Transaldolase Deficiency""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Conclusion""; ""Conflict of Interest"" ""AuthorsÂ? Contributions""""Take-Home Message""; ""References""; ""Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility""; ""Abstract""; ""Introduction""; ""Material and Methods""; ""Results""; ""Discussion""; ""Synopsis""; ""Conflict of Interest""; ""Informed Consent""; ""Details of the Contributions of Individual Authors""; ""References""; ""A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Take-Home Message"" ""Compliance with Ethics Guidelines"" |
| Record Nr. | UNINA-9910300078203321 |
| Cham : , : Springer International Publishing : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases / / edited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici
| Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases / / edited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (880 p.) |
| Disciplina |
599935
610 610724 611.01816 |
| Soggetto topico |
Metabolic diseases
Medical biochemistry Pediatrics Laboratory medicine Human genetics Metabolic Diseases Medical Biochemistry Laboratory Medicine Human Genetics |
| ISBN | 3-642-40337-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introductory Chapters -- Amino acids -- Organic acids -- Vitamins and neurotransmitter -- Energy metabolism -- Organelles -- Selected disorder -- Biochemical phenotypes of questionable clinical significance -- Profiles. |
| Record Nr. | UNINA-9910300081103321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||