000799731 000__ 05200cam\a2200577Ii\4500
000799731 001__ 799731
000799731 005__ 20230306143641.0
000799731 006__ m\\\\\o\\d\\\\\\\\
000799731 007__ cr\un\nnnunnun
000799731 008__ 170908s2017\\\\gw\\\\\\ob\\\\000\0\eng\d
000799731 019__ $$a1003255835
000799731 020__ $$a9783662558331$$q(electronic book)
000799731 020__ $$a3662558335$$q(electronic book)
000799731 020__ $$z9783662558324
000799731 020__ $$z3662558327
000799731 035__ $$aSP(OCoLC)on1003192618
000799731 035__ $$aSP(OCoLC)1003192618$$z(OCoLC)1003255835
000799731 040__ $$aN$T$$beng$$erda$$epn$$cN$T$$dEBLCP$$dN$T$$dGW5XE$$dOCLCF$$dYDX$$dNJR$$dOTZ
000799731 049__ $$aISEA
000799731 050_4 $$aRC627.8
000799731 08204 $$a616.3/9042$$223
000799731 24500 $$aJIMD reports.$$nVolume 35 /$$cEva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
000799731 264_1 $$aBerlin, Germany :$$bSpringer,$$c2017.
000799731 300__ $$a1 online resource.
000799731 336__ $$atext$$btxt$$2rdacontent
000799731 337__ $$acomputer$$bc$$2rdamedia
000799731 338__ $$aonline resource$$bcr$$2rdacarrier
000799731 4901_ $$aJIMD reports ;$$vvolume 35
000799731 504__ $$aIncludes bibliographical references.
000799731 5050_ $$aCerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability; Abstract; Introduction; Materials and Methods; Molecular Genetic Testing; Biochemical Testing; Imaging; Cognitive testing; EEG; Results; Discussion; Synopsis; Conflicts of Interest; Author Contributions; Compliance with Ethics Guidelines; References; Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants; Abstract; Introduction; Case Reports; Sibling 1; Sibling 2; Materials and Methods; Patient Enrollment; Urine Organic Acid Analysis; Muscle mtDNA Assay
000799731 5058_ $$aDNA Preparation, Exome Sequencing, and Data AnalysisResults; Whole Exome Sequencing; Mitochondrial DNA Depletion Assay; Discussion; Conclusion; Synopsis; Compliance with Ethics Guidelines; References; Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Childrenś Hospital; Abstract; Introduction; Methods; Results; Discussion; Conclusion; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; References; Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report...
000799731 5058_ $$aAbstractIntroduction; Case Presentation; Past Medical History; Discussion; Conclusion; Contributions of Individual Authors; Guarantor for the Article; Compliance with Ethics Guidelines; Competing Interests; Funding; Ethics; References; Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient; Abstract; Compliance with Ethics Guidelines; Conflict of Interest; Details of the Contributions of Individual Authors; References; Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine; Abstract; Introduction; Case Reports
000799731 5058_ $$aPatient 1Patient 2; Patient 3; Discussion; Take-Home Message; Authors ́Contribution; Competing Interest Statement; Ethics Statement; References; Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Featu...; Abstract; Introduction; Methods; Measurements of the Respiratory Chain Enzymes in Muscle; Immunoblotting; Genetic Investigations; Case Report and Results; Clinical and Neurological Presentation, Cerebral MRI Findings; Clinical Chemical, Metabolic, and Endocrine Findings
000799731 5058_ $$aMeasurements of the Respiratory Chain Enzymes in MuscleGenetic Investigations; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; References; Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience; Abstract; Introduction; Materials and Methods; Results; Discussion; Synopsis; Conflict of Interests; Consent; Ethics; Authors ́Contributions; Funding; References; The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening; Abstract; Introduction
000799731 506__ $$aAccess limited to authorized users.
000799731 520__ $$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.
000799731 588__ $$aOnline resource; title from PDF title page (viewed September 19, 2017).
000799731 650_0 $$aMetabolism, Inborn errors of.
000799731 650_0 $$aMetabolism$$xDisorders.
000799731 7001_ $$aMorava, Eva,$$eeditor
000799731 7001_ $$aBaumgartner, Matthias,$$eeditor.
000799731 7001_ $$aPatterson, Marc,$$eeditor.
000799731 7001_ $$aRahman, Shamima,$$eeditor.
000799731 7001_ $$aZschocke, Johannes,$$eeditor.
000799731 7001_ $$aPeters, Verena,$$eeditor.
000799731 77608 $$iPrint version:$$z3662558327$$z9783662558324$$w(OCoLC)1000596926
000799731 830_0 $$aJIMD reports ;$$vv. 35.
000799731 852__ $$bebk
000799731 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-662-55833-1$$zOnline Access$$91397441.1
000799731 909CO $$ooai:library.usi.edu:799731$$pGLOBAL_SET
000799731 980__ $$aEBOOK
000799731 980__ $$aBIB
000799731 982__ $$aEbook
000799731 983__ $$aOnline
000799731 994__ $$a92$$bISE