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007			cr nn nnnaamaa
008			180717s2018 gw | s |||| 0|eng d
020			_a9783662578803 _9
024	7		_a10.1007/978-3-662-57880-3 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC
050		4	_aRC627.8 2018 EB
245	0	0	_aJIMD Reports _nVolume 40 _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, 103 páginas 20 ilustraciones,13 ilustraciones a color)
336			_aTexto _btxt _2rdacontent
347			_atext file _bPDF _2
490	0		_aJIMD Reports _x2192-8304 _v40
505	0		_aNatural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan -- Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion -- ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation -- Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female -- The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria -- Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria -- Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening -- Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency -- Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers -- Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features -- Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria -- Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet -- Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood -- Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation -- Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC.
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	_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: _z9783662578797
776	0	8	_iEdición impresa: _z9783662578810
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-662-57880-3 _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			_c100640 _d100640 _x1