| 000 | 03948nam a22004575i 4500 | ||
|---|---|---|---|
| 001 | 86539 | ||
| 003 | ES-MaUEC | ||
| 005 | 20230214040158.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 160705s2016 gw | s |||| 0|eng d | ||
| 020 | _a9783662528471 | ||
| 040 | _aES-MaUEC | ||
| 050 | 4 |
_aRC627.8 _bJ563 2016 |
|
| 082 | 0 | 4 | _a611.01816 |
| 082 | 0 | 4 | _a599.935 |
| 245 | 0 | 0 |
_aJIMD Reports _nVolume 28 _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| 260 |
_aBerlin, Heidelberg _bSpringer Berlin Heidelberg _c2016 |
||
| 300 | _a1 recurso en línea (VI, 135 páginas) : | ||
| 336 |
_aTexto _btxt _2rdacontent |
||
| 337 |
_aelectrónico _bc _2rdamedia |
||
| 338 |
_arecurso electrónico _bcr _2rdacarrier |
||
| 490 | 0 |
_aJIMD Reports _x2192-8304 _v28 |
|
| 505 | 0 | _aLethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency -- Novel Direct Assay for Acetyl-CoA:Ü-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate -- Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy -- The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better? -- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease -- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure -- Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease -- Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS -- Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency -- Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice -- In Patients with an Ü-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease -- In Utero Diagnosis of Niemann�Pick Type C in the Absence of Family History -- Multiple, Successful Pregnancies in Pompe Disease -- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans -- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011�2014). | |
| 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. | |
| 710 | 2 |
_aSpringerLink (Online service) _0Local _9106996 |
|
| 942 |
_2lcc _cLE |
||
| 988 | _aEBOOK, asignarmaterias , EBSPRINGER | ||
| 650 | 7 |
_aMedicina _0comprobar BNE19900959047 _2embne _9405021 |
|
| 650 | 7 |
_aGenética humana _0comprobar BNE19900986777 _2embne _9140562 |
|
| 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 |
|
| 856 | 4 | 0 |
_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-662-52847-1 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid) |
| 901 | _ai9783662528471 | ||
| 907 |
_a.b12958177 _b10-10-17 _c21-11-16 |
||
| 998 |
_am _a_alco _a_vill _b - - _cm _dz _e- _feng _ggw _h0 |
||
| 945 |
_aRC627.8 J563 2016 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11599856 _z06-04-17 |
||
| 999 |
_c86539 _d86539 _x1 |
||