عنوان
پدید آورنده
موضوع
رده
RC627.8
RC627
.
8
کتابخانه
محل استقرار
INTERNATIONAL STANDARD BOOK NUMBER
(Number (ISBN
3662575779
(Number (ISBN
9783662575772
Erroneous ISBN
3662575760
Erroneous ISBN
9783662575765
TITLE AND STATEMENT OF RESPONSIBILITY
Title Proper
JIMD reports.
General Material Designation
[Book]
First Statement of Responsibility
Eva Morava, editor-in-chief ; Matthias Baumgartner [and others], editors ; Verena Peters, managing editor.
Volume Designation
Volume 39 /
.PUBLICATION, DISTRIBUTION, ETC
Place of Publication, Distribution, etc.
Berlin :
Name of Publisher, Distributor, etc.
Springer,
Date of Publication, Distribution, etc.
2018.
PHYSICAL DESCRIPTION
Specific Material Designation and Extent of Item
1 online resource
SERIES
Series Title
JIMD reports ;
Volume Designation
v. 39
CONTENTS NOTE
Text of Note
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.
Text of Note
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.
Text of Note
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.
Text of Note
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.
Text of Note
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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8
8
8
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SUMMARY OR ABSTRACT
Text of Note
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.
ACQUISITION INFORMATION NOTE
Source for Acquisition/Subscription Address
Springer Nature
Stock Number
com.springer.onix.9783662575772
OTHER EDITION IN ANOTHER MEDIUM
International Standard Book Number
9783662575765
TOPICAL NAME USED AS SUBJECT
Metabolism-- Disorders.
Metabolism, Inborn errors of.
Biomedicine.
Human Genetics.
Metabolic Diseases.
Molecular Medicine.
Pediatrics.
HEALTH & FITNESS-- Diseases-- General.
MEDICAL-- Clinical Medicine.
MEDICAL-- Diseases.
MEDICAL-- Evidence-Based Medicine.
MEDICAL-- Internal Medicine.
Metabolism-- Disorders.
Metabolism, Inborn errors of.
(SUBJECT CATEGORY (Provisional
HEA-- 039000
MED-- 014000
MED-- 022000
MED-- 045000
MED-- 112000
MFN
DEWEY DECIMAL CLASSIFICATION
Number
616
.
3/9042
Edition
23
LIBRARY OF CONGRESS CLASSIFICATION
Class number
RC627
.
8
PERSONAL NAME - ALTERNATIVE RESPONSIBILITY
Baumgartner, Matthias R.
Morava, Eva.
Peters, Verena.
ORIGINATING SOURCE
Date of Transaction
20200823192057.0
Cataloguing Rules (Descriptive Conventions))
pn
ELECTRONIC LOCATION AND ACCESS
Electronic name
مطالعه متن کتاب [Book]
Y
