عنوان
پدید آورنده
موضوع
رده
RC627.8
RC627
.
8
کتابخانه
محل استقرار
3662586479
3662586487
9783662586471
9783662586488
3662586460
9783662586464
JIMD reports.
[Book]
Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
Volume 45 /
Berlin, Germany :
Springer,
2019.
1 online resource
JIMD reports,
volume 45
2192-8304 ;
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
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
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
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
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
Springer Nature
com.springer.onix.9783662586471
JIMD reports. Volume 45.
9783662586464
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.
HEA-- 039000
MED-- 014000
MED-- 022000
MED-- 045000
MED-- 112000
MFN
MFN
616
.
3/9042
23
RC627
.
8
Baumgartner, Matthias
Morava, Eva
Patterson, Marc
Peters, Verena
Rahman, Shamima
Zschocke, Johannes
20200823193131.0
pn
مطالعه متن کتاب [Book]
Y
