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008			160505s2016 gw | s |||| 0|eng d
020			_a9783662504093
040			_aES-MaUEC
050		4	_aRC627.8 _b.J563 2016 EB
082	0	4	_a611.01816
082	0	4	_a599.935
245	0	0	_aJIMD Reports _nVolume 27 _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
250			_a1st ed.
260			_aBerlin, Heidelberg _bSpringer Berlin Heidelberg _c2016
300			_a1 recurso en línea (VI, 112 p.) _b28 ilustraciones, 14 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
490	1		_aJIMD Reports _x2192-8304 _v27
505	0		_aDetailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion -- Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency -- Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders -- SUCLA2< Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) -- Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD) -- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles -- IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia -- Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency -- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction -- Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice -- Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 -- The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group -- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) -- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency -- Further Delineation of the ALG9-CDG Phenotype
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
710	2		_aSpringerLink (Online service) _0Local _9106996
942			_2lcc _cLE
988			_aEBOOK, EBSPRINGER
650		7	_aEnfermedades hereditarias metabólicas _9156016 _0comprobar BNE19997299243 _2embne
700	1		_aMorava, Eva _eeditor literario _988507 _0Local
700	1		_aBaumgartner, Matthias R. _eeditor literario _0comprobar BNE20001827176 _930695
700	1		_aPatterson, Marc _eeditor literario _994072 _0Local
700	1		_aRahman, Shamima _eeditor literario _994073 _0Local
700	1		_aZschocke, Johannes _eeditor literario _933188 _0comprobar BNE20012548357
700	1		_aPeters, Verena _eeditor literario _988508 _0Local
830		0	_aJIMD Reports _x2192-8304 _v27 _9133666
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-662-50409-3 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
901			_ai9783662504093
907			_a.b12958104 _b10-10-17 _c21-11-16
998			_am _a_alco _a_vill _b27-09-17 _cm _dz _ek _feng _ggw _h0
945			_aRC627.8 .J563 2016 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11599790 _z06-04-17
999			_c86532 _d86532 _x1