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040			_aES-MaUEC _bspa _cES-MaUEC
336			_aTexto _btxt _2rdacontent
988			_aSpringerBiomedLife_2019
999			_c109213 _d109213 _x1
001			109213
005			20230214040201.0
008			190107s2019 gw | o |||| 0|eng d
020			_a9783662586174
024	7		_a10.1007/978-3-662-58617-4 _2doi
050		4	_aQH431 _b2019 EB
245	0	0	_aJIMD Reports _nVolume 44 _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
264		1	_aBerlin _bSpringer International Publishing _c2019
300			_a1 recurso en línea (VI, 119 páginas) _b32 ilustraciones, 22 ilustraciones a color
337			_aelectrónico _bc
338			_arecurso electrónico _bcr
347			_atext file _bPDF
490	0		_aBiomedical and Life Sciences (Springer-11642)
490	0		_aJIMD Reports _x2192-8304 _v44
505	0		_aA Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy -- Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency -- Sialuria: Ninth Patient Described Has a Novel Mutation in GNE -- Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy -- Psychosocial Functioning in Parents of MPS III Patients -- The Second Case of Saposin A Deficiency and Altered Autophagy -- An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study -- Demographics, Clinical Features, and Mortality of Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients -- Cobalamin D Deficiency Identified Through Newborn Screening -- Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties -- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients -- Enzyme Replacement Therapy During Pregnancy in Fabry Patients -- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia -- Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort -- Reversible Cerebral White Matter Abnormalities in Homocystinuria.
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	_2embne _aGenética humana _9140562
650		7	_2embne _aMetabolismo _xTrastornos _9168790
700	1		_aBaumgartner, Matthias R. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _930695
700	1		_aMorava, Eva. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _988507
700	1		_aPatterson, Marc. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _994072
700	1		_aPeters, Verena. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _988508
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 _933188
776	0	8	_iPrinted edition: _z9783662586167
776	0	8	_iPrinted edition: _z9783662586181
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi-org/10.1007/978-3-662-58617-4 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_aSI _cm _dz _feng _ggw _h0 _b07/2019 _ek _zSI