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" JIMD reports. "
Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
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BL
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| Record Number
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883027
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| Title & Author
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JIMD reports.\ Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
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| Publication Statement
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Berlin, Germany :: Springer,, 2018.
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| Series Statement
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JIMD reports,; volume 41
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1 online resource (vi, 129 pages)
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| ISBN
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3662580810
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: 9783662580813
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3662580802
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9783662580806
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| Contents
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Intro; Contents; Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excre ... ; Abstract; Introduction; Materials and Methods; Subjects; Analytical Methods; Urine Metadrenalines; Urine 5-Hydroxyindole Acetic Acid; Serum Tyrosine and Phenylalanine; Statistical Analysis; Results; Discussion; Conclusion; Compliance with Ethics Guidelines; Conflict of Interest; References; Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ra ... ; Abstract; Background
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Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an ExampleAbstract; Introduction; Methods; Results; Conclusions; Synopsis; Details of Contributions of Individual Authors and Corresponding Author; Funding and Conflict of Interest; Competing Interest Statement; Compliance with Ethics Guidelines and Patient Consent; Financial Disclosures Related to the Manuscript; References; Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1; Abstract; Introduction; Case; Pregnancy 1; Pregnancy 2; Discussion
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MethodologyPatients; Study Design; Statistical Analysis; Results; Demographics and Disease Characteristics; Joints Manifestations History; Quality of Life; Assessment of Physical Function; Discussion; Conclusion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; Competing Interests; Funding; References; Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing; Abstract; Case Report; Discussion; Synopsis; Compliance with Ethics Guidelines
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SubjectGenomic DNA Preparation and Whole-Exome Sequencing; Case History; Discussion; Conclusion; Synopsis; Contributions of Individual Authors; Guarantor of This Manuscript; Declaration of Competing Interest; Fundings; Ethics Approval; Consent; References; Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease; Abstract; Introduction; Case; Discussion; Synopsis; General Rules; Details of the Contributions of Individual Authors; The Name of the Corresponding Author; A Competing Interest Statement; References
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The Effect of GA1 on PregnancyIntra-familial Variability; Significance of Genetic Mutations Analysis; Synopsis; General Rules; Details of the Contributions of Individual Authors; The Name of the Corresponding Author; A Competing Interest Statement; Details of Funding; Details of Ethics Approval; A Patient Consent Statement; Documentation of Approval from the Institutional Committee for Care and Use of Laboratory Animals (or Comparable Committee); Guarantor; References; The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients; Abstract; Introduction
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| Abstract
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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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Metabolism-- Disorders.
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Metabolism, Inborn errors of.
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HEALTH FITNESS-- Diseases-- General.
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Medical genetics.
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Medical research.
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MEDICAL-- Clinical Medicine.
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MEDICAL-- Diseases.
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MEDICAL-- Evidence-Based Medicine.
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MEDICAL-- Internal Medicine.
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Metabolism-- Disorders.
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Metabolism, Inborn errors of.
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Metabolism.
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Paediatric medicine.
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| Dewey Classification
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616.3/9042
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| LC Classification
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RC627.8
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| Added Entry
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Baumgartner, Matthias R.
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Morava, Eva
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Patterson, Marc
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Peters, Verena
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Rahman, Shamima
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Zschocke, Johannes
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| Parallel Title
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Focus issue :adults and metabolism
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