عنوان
پدید آورنده
موضوع
رده
RC627.8
RC627
.
8
کتابخانه
محل استقرار
INTERNATIONAL STANDARD BOOK NUMBER
(Number (ISBN
3662566109
(Number (ISBN
9783662566107
Erroneous ISBN
3662566095
Erroneous ISBN
9783662566091
TITLE AND STATEMENT OF RESPONSIBILITY
Title Proper
JIMD reports.
General Material Designation
[Book]
First Statement of Responsibility
Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
Volume Designation
Volume 38 /
.PUBLICATION, DISTRIBUTION, ETC
Place of Publication, Distribution, etc.
Berlin, Germany :
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
38
CONTENTS NOTE
Text of Note
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.
Text of Note
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.
Text of Note
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.
Text of Note
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.
Text of Note
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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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. 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.
ACQUISITION INFORMATION NOTE
Source for Acquisition/Subscription Address
Springer Nature
Stock Number
com.springer.onix.9783662566107
OTHER EDITION IN ANOTHER MEDIUM
Title
JIMD reports. Volume 38.
International Standard Book Number
9783662566091
TOPICAL NAME USED AS SUBJECT
Metabolism-- Disorders.
Metabolism, Inborn errors of.
HEALTH & FITNESS-- Diseases-- General.
MEDICAL-- Clinical Medicine.
MEDICAL-- Diseases.
MEDICAL-- Evidence-Based Medicine.
Medical genetics.
MEDICAL-- Internal Medicine.
Medical research.
Metabolism-- Disorders.
Metabolism, Inborn errors of.
Metabolism.
Paediatric medicine.
(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
Patterson, Marc
Peters, Verena
Rahman, Shamima
Zschocke, Johannes
ORIGINATING SOURCE
Date of Transaction
20200823191430.0
Cataloguing Rules (Descriptive Conventions))
pn
ELECTRONIC LOCATION AND ACCESS
Electronic name
مطالعه متن کتاب [Book]
Y
