JIMD Reports, Volume 21

Name: JIMD Reports, Volume 21
Brand: Springer
Price: 96.29 EUR
Availability: OnlineOnly

Johannes Zschocke Matthias Baumgartner Eva Morava Marc Patterson Shamima Rahman Verena Peters(Herausgeber*in)

Springer (Verlag)

Erschienen am 17. Juni 2015

VI, 129 Seiten

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978-3-662-47172-2 (ISBN)

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Inhalt

Intro
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 KS
Correlation 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
Summary and Interpretation
Limitations
Concise 1 Sentence Take-Home Message (Synopsis) of the Article, Outlining What the Reader Learns from the Article
Compliance with Ethics Guidelines
Conflict of Interest
Informed Consent
Contributions
References
Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics
Abstract
Introduction
Methods
Participants
Evaluations
Clinical
Nutrition
Neuropsychological
Statistical Analyses
Results
Sample Demographics
Offspring Outcomes
Dysmorphology
Cognitive Functioning and Emotional Well-Being
Maternal Outcomes
Maternal 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 Synopsis
Compliance 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
Conclusion
Take-Home Message
Compliance with Ethics Guidelines
Conflict of Interest
Informed Consent
Details of the Contributions of Individual Authors
References
A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy
Abstract
Introduction
Methods
Institutional Review Board Approval
Participants and Recruitment
Study Population
Survey Design
Statistical Analysis
Results
Discussion
Synopsis
Compliance with Ethics Guidelines
Informed Consent
Contributions
References
Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines
Abstract
Introduction
Methods
Download Statistics from Online Sources
Assessment of Facilities Necessary for the Practical Implementation of the Guidelines in Pediatric Units
Guideline Assessment Using the AGREE Instrument
Regional Implementation of Guidelines
Results
Download Statistics from Online Sources
Assessment of Facilities Necessary for the Practical Implementation of the Guidelines in Pediatric Units
Guideline Assessment Using the AGREE Instrument
Regional Implementation of Guidelines
Discussion
Conclusion
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Compliance with Ethics Guidelines
Conflict of Interest
Animal Rights
Contributions of Each Author
References
Autophagy in Natural History and After ERT in Glycogenosis Type II
Abstract
Introduction
Material and Methods
Patients
Muscle Morphology, Immunohistochemistry, and Immunoblot
Results
Patients in Natural History (Table1)
Patients in ERT Treatment (Table1)
Disease Progression and Autophagy Impairment
Early ERT Treatment Restores Autophagy
Discussion
Synopsis
Compliance with Ethics Guidelines
Conflict of Interest
Informed Consent
Contribution of Individual Authors
References
Is l-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?
Abstract
Introduction
Methods
Statistics and Analysis
Results
Discussion
Limitations
Conclusion
Funding
Synopsis
Compliance with Ethics Guidelines
Conflict of Interest
Informed Consent
Details of the Contributions of Individual Authors
References
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar
Abstract
Introduction
Methodology
Results
Developmental Domains
Education Attainment
Cognitive Function
Newborn Screening and Outcomes
Discussion
Conclusion
Compliance with Ethics Guidelines
Funding
References
Diet History Is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients with Phenylketonuria
Abstract
Introduction
Methods
Results
Discussion
Conclusions
Compliance with Ethics Guidelines
Contributions of Individual Authors
Informed Consent
Appendix
References
Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report
Abstract
Introduction
Case Report
Discussion
Compliance with Ethics Guidelines
Conflict of Interest
Author Contributions
References
Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?
Abstract
Introduction
Case Report
Discussion
Compliance with Ethics Guidelines
Conflict of Interest
Informed Consent
Author Contributions
References
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Bre...
Abstract
Introduction
Materials and Methods
Study Subjects
Ethical Considerations
Genetic Studies
Biochemical Analysis
Results
Genetic Analysis (Fig.1, Supplemental Fig. 1)
Clinical Courses and Interventions (Fig.2)
Clinical and Laboratory Characteristics of Infantile Cases with Sitosterolaemia (Table1)
Discussion
Take-Home Message
Compliance with Ethics Guidelines
Author Contributions
References
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations
Abstract
Introduction
Materials and Methods
Sample Criteria
Molecular Genetic Studies
Result
Discussion
Take-Home Message of the Article
Compliance with Ethics Guidelines
Contribution of Authors in Project
References
Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

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