JIMD reports. Volume 36 /

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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Bibliographic Details
Other Authors Morava, Eva (Editor), Baumgartner, Matthias (Editor), Patterson, Marc (Editor), Rahman, Shamima (Editor), Zschocke, Johannes (Editor), Peters, Verena (Editor)
Format Electronic eBook
LanguageEnglish
Published Berlin, Germany : Springer, 2017.
SeriesJIMD reports ; v. 36.
Subjects
Metabolism, Inborn errors of.
Metabolism > Disorders.
elektronické knihy
electronic books
Online AccessFull text
ISBN9783662561386
9783662561379
ISSN2192-8304 ;
Physical Description1 online resource (vi, 120 pages) : illustrations (some color)

Cover

Table of Contents:
  • Contents
  • False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
  • Abstract
  • Introduction
  • Case Report
  • Discussion
  • Synopsis
  • Compliance with Ethics Guidelines
  • Conflict of Interest
  • Informed Consent/Animal Rights
  • Details of the Contributions of Individual Authors
  • References
  • Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach
  • Abstract
  • Introduction
  • Methods
  • Accelerometer
  • Study Protocol
  • Study Protocol for PatientsStudy Protocol for Healthy Controls
  • Analyses
  • Feasibility
  • Face Validity
  • Patients Versus Controls
  • Subgroup Analyses
  • Statistical Analyses
  • Ethics
  • Results
  • Study Population
  • Feasibility
  • Face Validity
  • Patients Versus Controls
  • Subgroup Analyses
  • Recommendations
  • Discussion
  • Take Home Message
  • Details of the Contributions of Individual Authors
  • Name of One Author Who Serves as Guarantor
  • A Competing Interest Statement
  • Details of Funding
  • Details of Ethics Approval/A Patient Consent StatementApproval from the Institutional Committee for Care and Use of Laboratory Animals
  • References
  • Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment i ...
  • Abstract
  • Introduction
  • Materials and Methods
  • Subjects
  • Transcranial Magnetic Stimulation
  • Results
  • Patient 1
  • Patient 2
  • Patient 3
  • Patient 4
  • Effect of Miglustat Treatment on Neurophysiological Parameters
  • Discussion
  • Author Contributions
  • Conflicts of InterestEthical Standards
  • References
  • Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS ...
  • Abstract
  • Introduction
  • Patients and Methods
  • Results
  • Discussion and Conclusion
  • Take Home Message
  • Conflict of Interest
  • Informed Consent
  • Animal Rights
  • Details of the Contributions of Individual Authors
  • References
  • Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?
  • Abstract
  • Introduction
  • Materials and MethodsProspective Newborn Screening
  • Retrospective Screening
  • Statistics
  • Results
  • Length, Weight, Gestational Age and Parity
  • Apgar
  • Free Carnitine, fC0
  • 1986-2001, Retrospective Screening
  • 2002-2008, Pilot Project
  • 2009-2014, Routine Newborn Screening
  • c.95A>G Homozygotes
  • Discussion
  • Carnitine Levels in Newborns
  • Screening Programmes
  • Differing Genotype Detection
  • Improve Detection in the Faroe Islands
  • Conclusion
  • Compliance with Ethics Guidelines
  • Conflict of Interest

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