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JIMD reports. Volume 21

Author: Johannes ZschockeMatthias BaumgartnerEva MoravaMarc PattersonShamima RahmanAll authors
Publisher: Heidelberg : Springer, 2015.
Series: JIMD reports, 21.
Edition/Format:   eBook : Document : EnglishView all editions and formats
Summary:
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.
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Genre/Form: Electronic books
Additional Physical Format: Printed edition:
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Johannes Zschocke; Matthias Baumgartner; Eva Morava; Marc Patterson; Shamima Rahman; Verena Peters
ISBN: 9783662471722 3662471728 366247171X 9783662471715
OCLC Number: 911200774
Description: 1 online resource.
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.
Series Title: JIMD reports, 21.
Responsibility: Johannes Zschocke, editor-in-chief ; Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, editors ; Verena Peters, managing editor.

Abstract:

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  Read more...

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