JIMD Reports, Volume 19 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters

• Record Nr.: UNINA9910300178403321
• Pubbl/distr/stampa: Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015
• ISBN: 3-662-46190-0
• Edizione: [1st ed. 2015.]
• Descrizione fisica: 1 online resource (122 p.)
• Collana: JIMD Reports, , 2192-8304 ; ; 19
• Disciplina: 616.39042
• Soggetti: Human genetics; Metabolic diseases; Pediatrics; Human physiology; Human Genetics; Metabolic Diseases; Human Physiology; Genètica humana; Trastorns del metabolisme; Pediatria; Fisiologia humana; Llibres electrònics
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references at the end of each chapters.
• 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
• Sommario/riassunto: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.