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001			96491
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006			m o d
007			cr cnu|||unuuu
008			170908s2017 gw ob 000 0 eng d
020			_a3662558335 _q(electronic bk.)
020			_a9783662558331 _q(electronic bk.)
020			_z3662558327
020			_z9783662558324 _q(print)
040			_aN$T _beng _erda _epn _cN$T _dEBLCP _dN$T _dGW5XE _dOCLCF _dYDX _dNJR _dOTZ _dAZU _dUPM _dMERER _dIOG _dCOO _dOCLCQ _dOHI _dES-MaUEC _bspa
050		4	_aRC627.8 _b2017 EB
245	0	0	_aJIMD Reports _nVolume 35 _cEva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
264		1	_aBerlin, Germany _bSpringer International Publishing _c2017
300			_a1 recurso en línea
336			_aTexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_atext file _bPDF
490	0		_aJIMD reports _vvolume 35
500			_a _bSpringer Biomedical and Life Sciences eBooks 2017 English+International
504			_aIncluye referencias bibliográficas
505	0		_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
505	8		_aAbstract; Introduction; 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
505	8		_aDNA Preparation, Exome Sequencing, and Data Analysis; Results; 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...
505	8		_aMeasurements of the Respiratory Chain Enzymes in Muscle; Genetic 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 Ćontributions; Funding; References; The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening; Abstract; Introduction
505	8		_aPatient 1; Patient 2; Patient 3; Discussion; Take-Home Message; Authors Ćontribution; 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
520	3		_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.
650		7	_aMetabolismo _xDisorders. _2embne _0(OCoLC)fst01017476 _0 _9138638
700	1		_aBaumgartner, Matthias R. _eeditor literario _930695
700	1		_aMorava, Eva, _eeditor _988507
700	1		_aPatterson, Marc, _eeditor literario _994072
700	1		_aPeters, Verena, _eeditor literario _988508
700	1		_aRahman, Shamima, _eeditor literario _994073
700	1		_aZschocke, Johannes, _eeditor literario _933188
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://link.springer.com/10.1007/978-3-662-55833-1 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
988			_aEBOOK, asignarmaterias, EBSPRINGER_2017
998			_b02/2018 _dz _e- _zSI
999			_c96491 _d96491 _x1