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008			160908s2016 gw | s |||| 0|eng d
020			_a9783662532782
040			_aES-MaUEC
050		4	_aRC627.8 _b.J55 2015 EB
082	0	4	_a599.935
082	0	4	_a611.01816
245	0	0	_aJIMD Reports _nVolume 29 _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
250			_a1st ed.
264		1	_aBerlin, Heidelberg _bSpringer Berlin Heidelberg _c2016
300			_a1 recurso en línea (VI, 113 páginas) _b34 ilustraciones, 14 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
490	0		_aJIMD Reports _x2192-8304 _v29
505	0		_aLC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance -- A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect -- Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis -- Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia -- CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome -- Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI -- Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain -- A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts -- Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age -- The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis -- Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? -- Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation -- Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency -- Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants -- Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Erratum to: Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.
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.
650		7	_aEnfermedades hereditarias metabólicas _9156016
700	1		_aBaumgartner, Matthias R. _eeditor literario _0comprobar BNE20001827176 _1http://viaf.org/viaf/72135881 _930695
700	1		_aMorava, Eva. _eeditor literario _988507 _0Local _1http://viaf.org/viaf/4574149068536565730004
700	1		_aPatterson, Marc. _eeditor literario _994072 _0Local _0http://id.loc.gov/authorities/names/n84081570 _1http://viaf.org/viaf/70328454
700	1		_aPeters, Verena. _eeditor literario _988508 _0Local _0http://id.loc.gov/authorities/names/n2013044846 _1http://viaf.org/viaf/42626782
700	1		_aRahman, Shamima. _eeditor literario _994073 _0Local
700	1		_aZschocke, Johannes. _eeditor literario _933188 _0comprobar BNE20012548357 _0http://id.loc.gov/authorities/names/n00138248 _1http://viaf.org/viaf/70033460
710	2		_aSpringerLink (Online service) _0Local _0http://id.loc.gov/authorities/names/no2005046756 _1http://viaf.org/viaf/148105729 _9106996
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-662-53278-2 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
901			_ai9783662532782
907			_a.b12958189 _b10-10-17 _c21-11-16
942			_2lcc _cLE
945			_aEBOOK EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11615722 _z30-06-17
988	0	0	_aEBOOK, EBSPRINGER, GOBI_sep2018
988			_aEbook_one2one
998			_aSI _a_alco _a_vill _b10/2018 _cm _dz _ef _feng _ggw _h0
999			_c86540 _d86540 _x1