عنوان
پدید آورنده
موضوع
رده
RC627.8
RC627
.
8
کتابخانه
محل استقرار
3662583658
9783662583654
366258364X
9783662583647
JIMD reports.
[Book]
Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
Volume 42 /
Berlin :
Springer,
[2018]
©2018
1 online resource :
illustrations (some color)
JIMD Reports,
42
2192-8304 ;
Includes bibliographical references.
Intro; Contents; Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use ... ; Abstract; Introduction; Patient Report; Discussion; Conclusion; Compliance with Ethics Guidelines; References; A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complic ... ; Abstract; Introduction; Case Report; Discussion; Conclusion; Conflict of Interest; Informed Consent; Contributions of the Individual Authors; References.
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results o ... Abstract; Introduction; Methods; Study Design; Evaluation of Endurance and Exercise Capacity; Statistical Methods; Results; Patient Characteristics; Endurance Outcomes; CPET Outcomes; Correlations Between Endurance Measures and Peak VO2 (Supportive online material 5); Discussion; Conclusions; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References.
CasesDiscussion; Take-Home Message; Contributions of Individual Authors; Corresponding Author; Competing Interest Statement; Details of Funding; Details of Ethics Approval; Patient Consent Statement; References; The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria; Abstract; Introduction; Participants and Methods; Anthropometry and BIA Measurements; Criterion Method: Deuterium Isotopic Dilution; Statistical Analysis; Results; Total Body Water; Fat-Free Mass Determination; Discussion; Synopsis; Contributions of Individual Authors; Corresponding Author.
Competing Interest StatementDetails of Funding; Details of Ethics Approval; Patient Consent Statement; References; Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops; Abstract; Introduction; Methods; Formulation; Cysteamine Measurement; Statistical Analysis; Results; Discussion; Conclusion; Synopsis; Details of the Contributions of Individual Authors; Name of One Author Who Serves as Guarantor; A Competing Interest Statement; Details of Funding; Details of Ethics Approval and Patient Consent; References.
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondria ... Abstract; Introduction; Materials and Methods; Clinical Summary; Respiratory Chain Enzyme Activities; Whole Genome Sequencing; cDNA Synthesis Studies; Results; Discussion; Key Messages; Details of the Contributions of Individual Authors; Compliance with Ethical Standards; Conflict of Interest; Ethics; References; Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q ... ; Abstract; Introduction.
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8
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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.
Springer Nature
com.springer.onix.9783662583654
9783662583647
9783662583661
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 R.
Morava, Eva
Patterson, Marc
Peters, Verena
Rahman, Shamima
Zschocke, Johannes
20200823192931.0
pn
مطالعه متن کتاب [Book]
Y
