JIMD reports. Volume 19 ([2015])

• Record Type: Book
• Further Information: Note: Johannes Zschocke, editor-in-chief ; Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, editors ; Verena Peters, managing editor.
• Editors: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena
• 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.
• Publisher Details: Heidelberg : Springer
• Publication Date: 2015
• Copyright Date: 2015
• Extent: 1 online resource (vi, 121 pages)
• Subjects: 616.39042; Medicine; Metabolism, Inborn errors of; Metabolism -- Disorders; HEALTH & FITNESS -- Diseases -- General; MEDICAL -- Clinical Medicine; MEDICAL -- Diseases; MEDICAL -- Evidence-Based Medicine; MEDICAL -- Internal Medicine; Metabolism -- Disorders; Metabolism, Inborn errors of; Medical -- Endocrinology & Metabolism; Medical -- Pediatrics; Medical -- Physiology; Metabolism; Paediatric medicine; Physiology; Human genetics; Metabolic diseases; Pediatrics; Human physiology; Medical -- Genetics; Medical genetics; Electronic books
• Languages: English
• ISBNs: 9783662461907; 3662461900; 3662461897; 9783662461891
• Related ISBNs: 9783662461891
• Notes: Note: Includes bibliographical references.; Note: Online resource; title from PDF title page (EBSCO, viewed July 15, 2015).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.