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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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883100
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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 :: Springer,, [2018]
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, ©2018
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| Series Statement
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JIMD Reports,; 42
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1 online resource :: illustrations (some color)
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| ISBN
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3662583658
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: 9783662583654
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366258364X
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9783662583647
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| Bibliographies/Indexes
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Includes bibliographical references.
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| Contents
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Intro; Contents; Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use ... ; Abstract; Introduction; Patient Report; Discussion; Conclusion; Compliance with Ethics Guidelines; References; A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complic ... ; Abstract; Introduction; Case Report; Discussion; Conclusion; Conflict of Interest; Informed Consent; Contributions of the Individual Authors; References.
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Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results o ... Abstract; Introduction; Methods; Study Design; Evaluation of Endurance and Exercise Capacity; Statistical Methods; Results; Patient Characteristics; Endurance Outcomes; CPET Outcomes; Correlations Between Endurance Measures and Peak VO2 (Supportive online material 5); Discussion; Conclusions; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References.
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CasesDiscussion; Take-Home Message; Contributions of Individual Authors; Corresponding Author; Competing Interest Statement; Details of Funding; Details of Ethics Approval; Patient Consent Statement; References; The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria; Abstract; Introduction; Participants and Methods; Anthropometry and BIA Measurements; Criterion Method: Deuterium Isotopic Dilution; Statistical Analysis; Results; Total Body Water; Fat-Free Mass Determination; Discussion; Synopsis; Contributions of Individual Authors; Corresponding Author.
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Competing Interest StatementDetails of Funding; Details of Ethics Approval; Patient Consent Statement; References; Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops; Abstract; Introduction; Methods; Formulation; Cysteamine Measurement; Statistical Analysis; Results; Discussion; Conclusion; Synopsis; 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 and Patient Consent; References.
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EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondria ... Abstract; Introduction; Materials and Methods; Clinical Summary; Respiratory Chain Enzyme Activities; Whole Genome Sequencing; cDNA Synthesis Studies; Results; Discussion; Key Messages; Details of the Contributions of Individual Authors; Compliance with Ethical Standards; Conflict of Interest; Ethics; References; Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q ... ; 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-- 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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| 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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