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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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882701
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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 ;; 38
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1 online resource
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| ISBN
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3662566109
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: 9783662566107
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3662566095
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9783662566091
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| Contents
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Intro; Contents; First Successful Conception Induced by a Male Cystinosis Patient; Abstract; Introduction; Case Report; Discussion; Take-Home Message; Details of the Contributions of Individual Authors; Competing Interest Statement; Details of Funding; Details of Ethical Approval; References; Glutaric Acidemia Type 1: A Case of Infantile Stroke; Abstract; Introduction; Case; Discussion; Details of the Contributions of Individual Authors; The Name of the Corresponding Author; A Competing Interest Statement; Conflict of Interest; Details of Funding; Ethics Statements; References.
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DiscussionSynopsis; Details of the Contributions of Individual Authors; References; Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Aga ... ; Abstract; Introduction; Methods; Results; Discussion; Conclusions; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; Financial Relationships for the Work Under Consideration for Publication; Relevant Financial Activities Outside the Submitted Work; References.
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Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene MutationsAbstract; Introduction; Methods; Patients; Muscle Biopsy; Biochemical Analysis; Genetic Analysis; Case Reports; Patient 1; Patient 2; Patient 3; Patient 4; Patient 5; Patient 6; Results; Patients; Muscle Imaging; Genetic Analysis; Discussion; Synopsis; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contribution of Individual Authors; References; Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism; Abstract; Introduction; Case 1; Case 2.
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Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 DeficiencyAbstract; Introduction; Patients and Methods; Patients; GLUT1-DS Patients; PDHD Patients; Methods; Treatments; Ketone Bodies, Lactate, and PDHc Activity Measurement; In Vitro Oxidation Rate Measurement; Results; Clinical Follow-Up; Biological Follow-Up; In Vitro Study of 3-Hydroxybutyrate and Glucose Oxidation Ability in PDHD Fibroblasts; Discussion; Take-Home Message; Contribution of Individual Authors; Corresponding Author; Competing Interest Statement; Funding.
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Treatment of Depression in Adults with Fabry DiseaseAbstract; Introduction; Methods; Measures; Data Analysis; Results; Primary Results; Psychological Symptoms; Quality of Life; Pain; Discussion; One Sentence Take-Home Message; Contributions of Individual Authors; Conflicts of Interest; Funding Source; Informed Consent; References; Mutations in GMPPB Presenting with Pseudometabolic Myopathy; Abstract; Introduction; Case Report; Discussion; Take Home Message; Compliance With Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; References.
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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. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.
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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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