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000856427 019__ $$a1079787917
000856427 020__ $$a9783662583654$$q(electronic book)
000856427 020__ $$a3662583658$$q(electronic book)
000856427 020__ $$z9783662583647
000856427 0247_ $$a10.1007/978-3-662-58365-4$$2doi
000856427 035__ $$aSP(OCoLC)on1062418966
000856427 035__ $$aSP(OCoLC)1062418966$$z(OCoLC)1079787917
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000856427 049__ $$aISEA
000856427 050_4 $$aRC627.8
000856427 08204 $$a616.3/9042$$223
000856427 24500 $$aJIMD reports.$$nVolume 42 /$$cEva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
000856427 264_1 $$aBerlin :$$bSpringer,$$c[2018]
000856427 264_4 $$c©2018
000856427 300__ $$a1 online resource :$$billustrations
000856427 336__ $$atext$$btxt$$2rdacontent
000856427 337__ $$acomputer$$bc$$2rdamedia
000856427 338__ $$aonline resource$$bcr$$2rdacarrier
000856427 347__ $$atext file$$bPDF$$2rda
000856427 4901_ $$aJIMD Reports,$$x2192-8304 ;$$v42
000856427 504__ $$aIncludes bibliographical references.
000856427 5050_ $$aIntro; Contents; Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use ...; Abstract; Introduction; Patient Report; Discussion; Conclusion; Compliance with Ethics Guidelines; References; A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complic...; Abstract; Introduction; Case Report; Discussion; Conclusion; Conflict of Interest; Informed Consent; Contributions of the Individual Authors; References
000856427 5058_ $$aCardiopulmonary 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
000856427 5058_ $$aEPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondria...Abstract; Introduction; Materials and Methods; Clinical Summary; Respiratory Chain Enzyme Activities; Whole Genome Sequencing; cDNA Synthesis Studies; Results; Discussion; Key Messages; Details of the Contributions of Individual Authors; Compliance with Ethical Standards; Conflict of Interest; Ethics; References; Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q...; Abstract; Introduction
000856427 5058_ $$aCasesDiscussion; 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
000856427 5058_ $$aCompeting Interest StatementDetails of Funding; Details of Ethics Approval; Patient Consent Statement; References; Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops; Abstract; Introduction; Methods; Formulation; Cysteamine Measurement; Statistical Analysis; Results; Discussion; Conclusion; Synopsis; Details of the Contributions of Individual Authors; Name of One Author Who Serves as Guarantor; A Competing Interest Statement; Details of Funding; Details of Ethics Approval and Patient Consent; References
000856427 506__ $$aAccess limited to authorized users.
000856427 520__ $$aJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
000856427 588__ $$aOnline resource ; title from PDF title page (viewed November 14, 2018).
000856427 650_0 $$aMetabolism, Inborn errors of.
000856427 650_0 $$aMetabolism$$xDisorders.
000856427 7001_ $$aMorava, Eva,$$eeditor.
000856427 7001_ $$aBaumgartner, Matthias R.,$$eeditor.
000856427 7001_ $$aPatterson, Marc,$$eeditor.
000856427 7001_ $$aRahman, Shamima,$$eeditor.
000856427 7001_ $$aZschocke, Johannes,$$eeditor.
000856427 7001_ $$aPeters, Verena,$$eeditor.
000856427 77608 $$iPrint version: $$z9783662583647
000856427 830_0 $$aJIMD reports ;$$v42.
000856427 852__ $$bebk
000856427 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-662-58365-4$$zOnline Access$$91397441.1
000856427 909CO $$ooai:library.usi.edu:856427$$pGLOBAL_SET
000856427 980__ $$aEBOOK
000856427 980__ $$aBIB
000856427 982__ $$aEbook
000856427 983__ $$aOnline
000856427 994__ $$a92$$bISE