عنوان
پدید آورنده
موضوع
رده
RC627.8
RC627
.
8
کتابخانه
محل استقرار
INTERNATIONAL STANDARD BOOK NUMBER
(Number (ISBN
3662586479
(Number (ISBN
3662586487
(Number (ISBN
9783662586471
(Number (ISBN
9783662586488
Erroneous ISBN
3662586460
Erroneous ISBN
9783662586464
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 45 /
.PUBLICATION, DISTRIBUTION, ETC
Place of Publication, Distribution, etc.
Berlin, Germany :
Name of Publisher, Distributor, etc.
Springer,
Date of Publication, Distribution, etc.
2019.
PHYSICAL DESCRIPTION
Specific Material Designation and Extent of Item
1 online resource
SERIES
Series Title
JIMD reports,
Volume Designation
volume 45
ISSN of Series
2192-8304 ;
CONTENTS NOTE
Text of Note
Intro; Contents; I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Conseq ... ; Abstract; Background; Methods and Inclusion Criteria; Results; Baseline Data; Diagnosis; Age at Diagnosis; Presenting Features (See Table 2); Ethnicity; Birth; Genetics; Airway/Anaesthetic and Respiratory Issues; Cardiac Issues; Feeding Issues; ENT Manifestations of Disease and Treatment; Teams Involved in Patient Care; Discussion; Airway Issues; Respiratory Issues; Cardiac Issues; Gastroenterological Issues; Phenotypic Variations; Conclusions
Text of Note
AbstractIntroduction; Case Report; Methods; Cell Culturing; Quantification of Cellular Flavin Content and Measurement of FAD Synthesis Rate; Western Blotting; Results; Flavin Content and FAD Synthesis Rate in Fibroblasts; FADS and Flavoenzyme Protein Levels in Fibroblasts; Discussion; Key Message; Author Contributions; Corresponding Author; Conflict of Interest; Acknowledgments and Funding; Compliance with Ethical Standards; References; The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism; Abstract; Introduction; Methods
Text of Note
IntroductionMaterials and Methods; Statistical Methods; Results; Patient Characteristics; Propionic Acidemia (n = 5) and Citrullinemia Type 1 (n = 3); Crigler-Najjar Syndrome Type 1 (n = 5); APOLT Procedure; Post-transplant Course; Immunosuppression Post-APOLT; Post-transplant Complications; Follow-Up; Development and Quality of Life; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contributions of Individual Authors; References; A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy
Text of Note
One Sentence Take-Home MessageContributions of Individual Authors; The Authors Who Serves as Guarantor; Competing Interest; Funding; Ethics Approval and Patients Consent; References; Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases; Abstract; Introduction; Materials and Methods; Sample; Procedures; Statistical Analysis; Results; Discussion; Concise One Sentence About Manuscript; General Rules; References#x84;; Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience; Abstract
0
8
8
8
SUMMARY OR ABSTRACT
Text of Note
Declarations; Ethics Approval and Consent to Participate; Consent for Publication; Availability of Data and Material; Completing Interests; Funding; Authors ́Contributions; References; Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency; Abstract; Introduction; Materials and Methods; Patients and Experimental Design; Developmental and Other Assessments; Biochemical Assays; Data Analysis and Statistics; Results; Clinical Observation; Growth; Developmental and Cognitive Evaluation; Plasma Ganglioside Levels; Discussion
ACQUISITION INFORMATION NOTE
Source for Acquisition/Subscription Address
Springer Nature
Stock Number
com.springer.onix.9783662586471
OTHER EDITION IN ANOTHER MEDIUM
Title
JIMD reports. Volume 45.
International Standard Book Number
9783662586464
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-- Internal Medicine.
Metabolism-- Disorders.
Metabolism, Inborn errors of.
(SUBJECT CATEGORY (Provisional
HEA-- 039000
MED-- 014000
MED-- 022000
MED-- 045000
MED-- 112000
MFN
MFN
DEWEY DECIMAL CLASSIFICATION
Number
616
.
3/9042
Edition
23
LIBRARY OF CONGRESS CLASSIFICATION
Class number
RC627
.
8
PERSONAL NAME - ALTERNATIVE RESPONSIBILITY
Baumgartner, Matthias
Morava, Eva
Patterson, Marc
Peters, Verena
Rahman, Shamima
Zschocke, Johannes
ORIGINATING SOURCE
Date of Transaction
20200823193131.0
Cataloguing Rules (Descriptive Conventions))
pn
ELECTRONIC LOCATION AND ACCESS
Electronic name
مطالعه متن کتاب [Book]
Y
