000845851 000__ 05376cam\a2200601Ii\4500
000845851 001__ 845851
000845851 005__ 20230306144944.0
000845851 006__ m\\\\\o\\d\\\\\\\\
000845851 007__ cr\cn\nnnunnun
000845851 008__ 180905s2018\\\\gw\\\\\\o\\\\\000\0\eng\d
000845851 019__ $$a1050614701
000845851 020__ $$a9783662580813$$q(electronic book)
000845851 020__ $$a3662580810$$q(electronic book)
000845851 020__ $$z9783662580806
000845851 020__ $$z3662580802
000845851 0247_ $$a10.1007/978-3-662-58081-3$$2doi
000845851 035__ $$aSP(OCoLC)on1050448261
000845851 035__ $$aSP(OCoLC)1050448261$$z(OCoLC)1050614701
000845851 040__ $$aGW5XE$$beng$$erda$$epn$$cGW5XE$$dN$T$$dEBLCP$$dNLE$$dYDX$$dUAB$$dDKU
000845851 049__ $$aISEA
000845851 050_4 $$aRC627.8
000845851 08204 $$a616.3/9042$$223
000845851 24500 $$aJIMD reports.$$nVolume 41,$$pFocus issue: adults and metabolism /$$cEva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
000845851 24630 $$aFocus issue :$$badults and metabolism
000845851 264_1 $$aBerlin, Germany :$$bSpringer,$$c2018.
000845851 300__ $$a1 online resource (vi, 129 pages).
000845851 336__ $$atext$$btxt$$2rdacontent
000845851 337__ $$acomputer$$bc$$2rdamedia
000845851 338__ $$aonline resource$$bcr$$2rdacarrier
000845851 347__ $$atext file$$bPDF$$2rda
000845851 4901_ $$aJIMD reports,$$x2192-8304 ;$$vvolume 41
000845851 5050_ $$aIntro; Contents; Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excre...; Abstract; Introduction; Materials and Methods; Subjects; Analytical Methods; Urine Metadrenalines; Urine 5-Hydroxyindole Acetic Acid; Serum Tyrosine and Phenylalanine; Statistical Analysis; Results; Discussion; Conclusion; Compliance with Ethics Guidelines; Conflict of Interest; References; Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ra...; Abstract; Background
000845851 5058_ $$aSubjectGenomic DNA Preparation and Whole-Exome Sequencing; Case History; Discussion; Conclusion; Synopsis; Contributions of Individual Authors; Guarantor of This Manuscript; Declaration of Competing Interest; Fundings; Ethics Approval; Consent; References; Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease; Abstract; Introduction; Case; Discussion; Synopsis; General Rules; Details of the Contributions of Individual Authors; The Name of the Corresponding Author; A Competing Interest Statement; References
000845851 5058_ $$aExpert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an ExampleAbstract; Introduction; Methods; Results; Conclusions; Synopsis; Details of Contributions of Individual Authors and Corresponding Author; Funding and Conflict of Interest; Competing Interest Statement; Compliance with Ethics Guidelines and Patient Consent; Financial Disclosures Related to the Manuscript; References; Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1; Abstract; Introduction; Case; Pregnancy 1; Pregnancy 2; Discussion
000845851 5058_ $$aThe Effect of GA1 on PregnancyIntra-familial Variability; Significance of Genetic Mutations Analysis; Synopsis; General Rules; Details of the Contributions of Individual Authors; The Name of the Corresponding Author; A Competing Interest Statement; Details of Funding; Details of Ethics Approval; A Patient Consent Statement; Documentation of Approval from the Institutional Committee for Care and Use of Laboratory Animals (or Comparable Committee); Guarantor; References; The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients; Abstract; Introduction
000845851 5058_ $$aMethodologyPatients; Study Design; Statistical Analysis; Results; Demographics and Disease Characteristics; Joints Manifestations History; Quality of Life; Assessment of Physical Function; Discussion; Conclusion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; Competing Interests; Funding; References; Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing; Abstract; Case Report; Discussion; Synopsis; Compliance with Ethics Guidelines
000845851 506__ $$aAccess limited to authorized users.
000845851 520__ $$aJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
000845851 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed September 5, 2018).
000845851 650_0 $$aMetabolism, Inborn errors of.
000845851 650_0 $$aMetabolism$$xDisorders.
000845851 7001_ $$aMorava, Eva,$$eeditor.
000845851 7001_ $$aBaumgartner, Matthias R.,$$eeditor.
000845851 7001_ $$aPatterson, Marc,$$eeditor.
000845851 7001_ $$aRahman, Shamima,$$eeditor.
000845851 7001_ $$aZschocke, Johannes,$$eeditor.
000845851 7001_ $$aPeters, Verena,$$eeditor.
000845851 77608 $$iPrint version: $$z3662580802$$z9783662580806$$w(OCoLC)1048936772
000845851 830_0 $$aJIMD reports ;$$vv. 41.
000845851 852__ $$bebk
000845851 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-662-58081-3$$zOnline Access$$91397441.1
000845851 909CO $$ooai:library.usi.edu:845851$$pGLOBAL_SET
000845851 980__ $$aEBOOK
000845851 980__ $$aBIB
000845851 982__ $$aEbook
000845851 983__ $$aOnline
000845851 994__ $$a92$$bISE