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008			180328s2018 gw | s |||| 0|eng d
020			_a9783662566107 _9
024	7		_a10.1007/978-3-662-56610-7 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC
050		4	_aRC627.8 2018 EB
245	0	0	_aJIMD Reports _nVolume 38 _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
264		1	_aBerlin _bSpringer International Publishing _c2018
300			_a1 recurso en línea (VI, 105 páginas 20 ilustraciones,7 ilustraciones a color)
336			_aTexto _btxt _2rdacontent
347			_atext file _bPDF _2
490	0		_aJIMD Reports _x2192-8304 _v38
505	0		_aFirst Successful Conception Induced by a Male Cystinosis Patient -- Glutaric Acidemia Type 1: A Case of Infantile Stroke -- Treatment of Depression in Adults with Fabry Disease -- Mutations in GMPPB Presenting with Pseudometabolic Myopathy -- Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations -- Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism -- Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry -- Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency -- GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A -- Effect of Lorenzo's Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice -- Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening -- Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 -- A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment -- An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia -- Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
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. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.
650		7	_aEnfermedades hereditarias metabólicas _9156016 _2embne
650		7	_aMetabolismo _xTrastornos _2embne _9168790
700	1		_aMorava, Eva _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _1http://viaf.org/viaf/4574149068536565730004 _988507
700	1		_aBaumgartner, Matthias R. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _1http://viaf.org/viaf/72135881 _930695
700	1		_aPatterson, Marc _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _0http://id.loc.gov/authorities/names/n84081570 _1http://viaf.org/viaf/70328454 _994072
700	1		_aRahman, Shamima _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _994073
700	1		_aZschocke, Johannes _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _0http://id.loc.gov/authorities/names/n00138248 _1http://viaf.org/viaf/70033460 _933188
700	1		_aPeters, Verena _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _0http://id.loc.gov/authorities/names/n2013044846 _1http://viaf.org/viaf/42626782 _988508
710	2		_aSpringerLink (Online service) _0http://id.loc.gov/authorities/names/no2005046756 _1http://viaf.org/viaf/148105729 _9106996
776	0	8	_iEdición impresa: _z9783662566091
776	0	8	_iEdición impresa: _z9783662566114
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-662-56610-7 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
490	0		_aBiomedical and Life Sciences (Springer-11642)
942			_2lcc
988			_aEBSPRINGER_2018
998			_aSI _a_alco _a_vill _b02/2019 _cm _dz _ek _feng _ggw _h0
999			_c100657 _d100657 _x1