| Document Type
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BL
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| Record Number
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882871
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| Title & Author
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JIMD reports.\ Eva Morava, editor-in-chief ; Matthias Baumgartner [and others], editors ; Verena Peters, managing editor.
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| Publication Statement
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Berlin :: Springer,, 2018.
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| Series Statement
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JIMD reports ;; v. 39
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| Page. NO
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1 online resource
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| ISBN
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3662575779
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: 9783662575772
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3662575760
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9783662575765
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| Contents
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Intro; Contents; Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency; Abstract; Introduction; Case Description; Discussion; Synopsis; Authorship Contribution; Corresponding Author; Funding; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; References; Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases; Abstract; Introduction; Case Presentation 1; Case Presentation 2; Case Presentation 3; Discussion; Take Home Message.
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Details of FundingDetails of Ethics Approval; A Patient Consent Statement; References; Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency; Abstract; Introduction; Case Report; Discussion; Synopsis; Compliance with Ethical Guidelines; Contributorś Statement; References; Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms; Abstract; Introduction; Case Presentation; Discussion; Conclusion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Statement; Informed Consent.
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Details of the Contribution of AuthorsCorresponding Author; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; References; The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients; Abstract; Introduction; Methods; Population Cohort; Patient Cohort; Statistical Methods; Results; Population Cohort; Patients; Discussion; Author Disclosure Statement; Concise One-Sentence Take-Home Message; General Rules; Details of the Contributions of Individual Authors; Correspondent and Guarantor; A Competing Interest Statement.
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Details of the Contributions of Individual AuthorsReferences; Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration ... ; Abstract; Introduction; Materials and Methods; Human Subjects; Pathology; Histopathology; Results; Case Report; Histopathology; Discussion; Synopsis; Details of the Contributions of Individual Authors; Name of the Corresponding Author; Competing Interest Statement; Details of Funding; Details of Ethics Approval; A Patient Consent Statement.
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Documentation of Approval from the Institutional Committee for Care and Use of Laboratory Animals (or Comparable Committee)References; Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Mi ... ; Abstract; Introduction; Methods; Results; Discussion; Synopsis; Author Contributions; Corresponding Author; Competing Interests; Funding; Ethics Approval and Patient Consent; References; Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals; 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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| Subject
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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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Biomedicine.
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Human Genetics.
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Metabolic Diseases.
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Molecular Medicine.
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| Subject
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Pediatrics.
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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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Peters, Verena.
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