JIMD reports. Volume 21 (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: 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 KSCorrelation 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. Maternal OutcomesMaternal 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 SynopsisCompliance 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 Enrolment; 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.
• Publisher Details: Heidelberg : Springer
• Publication Date: 2015
• Extent: 1 online resource
• Subjects: 616.39042; Medicine; Metabolism, Inborn errors of; Metabolism -- Disorders; Metabolism, Inborn Errors; 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: 9783662471722; 3662471728; 9783662471715
• Related ISBNs: 366247171X; 9783662471715
• Notes: Note: Online resource; title from PDF title page (SpringerLink, viewed June 22, 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.