000			03925nam a22004335i 4500
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003			ES-MaUEC
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007			cr nn 008mamaa
008			161103s2016 gw | s |||| 0|eng d
020			_a9783662536810
024	7		_a10.1007/978-3-662-53681-0 _2doi
040			_aES-MaUEC
050		4	_aRC627.8 _bJ563 2016 EB
245	0	0	_aJIMD Reports _nVolume 30 _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
250			_a1st ed. 2016.
260			_aBerlin, Heidelberg _bSpringer _c2016
300			_a1 recurso en línea (VI, 108 p.) _b20 ilustraciones, 13 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
490	1		_aJIMD Reports _x2192-8304 _v30
505	0		_aMultidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I -- Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux�Lamy Syndrome -- A New Approach for Fast Metabolic Diagnostics in CMAMMA -- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum -- ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis -- Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions -- A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor -- Identification of Cryptic Novel Ü-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions -- Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency -- Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency -- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV -- The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? -- Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures -- Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.
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	0	7	_aMetabolismo _2embne _9168790 _xTrastornos
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 _v30 _0http://id.loc.gov/authorities/names/no2011161076 _9133666
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-662-53681-0zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
907			_a.b12982866 _b10-10-17 _c08-03-17
942			_2lcc _cLE
945			_aRC627.8 J563 2016 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11604700 _z06-04-17
988			_aEBOOK, EBSPRINGER
998			_am _a_alco _a_vill _b - - _cm _dz _e- _feng _ggw _h0