| 000 | 03946nam a22006015i 4500 | ||
|---|---|---|---|
| 001 | 978-3-662-52847-1 | ||
| 003 | DE-He213 | ||
| 005 | 20180206183004.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 160705s2016 gw | s |||| 0|eng d | ||
| 020 |
_a9783662528471 _9978-3-662-52847-1 |
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| 050 | 4 | _aRB155-155.8 | |
| 050 | 4 | _aQH431 | |
| 072 | 7 |
_aMFN _2bicssc |
|
| 072 | 7 |
_aMED107000 _2bisacsh |
|
| 082 | 0 | 4 |
_a611.01816 _223 |
| 082 | 0 | 4 |
_a599.935 _223 |
| 245 | 1 | 0 |
_aJIMD Reports, Volume 28 _h[recurso electrónico] / _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. |
| 264 | 1 |
_aBerlin, Heidelberg : _bSpringer Berlin Heidelberg : _bImprint: Springer, _c2016. |
|
| 300 |
_aVI, 135 p. _bonline resource. |
||
| 336 |
_atext _btxt _2rdacontent |
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| 337 |
_acomputer _bc _2rdamedia |
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| 338 |
_aonline resource _bcr _2rdacarrier |
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| 347 |
_atext file _bPDF _2rda |
||
| 490 | 1 |
_aJIMD Reports, _x2192-8304 ; _v28 |
|
| 505 | 0 | _aLethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency -- Novel Direct Assay for Acetyl-CoA:?-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 ?-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 | _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 | _aMedicine. | |
| 650 | 0 | _aHuman genetics. | |
| 650 | 0 | _aMolecular biology. | |
| 650 | 0 | _aMetabolic diseases. | |
| 650 | 0 | _aPediatrics. | |
| 650 | 1 | 4 | _aBiomedicine. |
| 650 | 2 | 4 | _aHuman Genetics. |
| 650 | 2 | 4 | _aMetabolic Diseases. |
| 650 | 2 | 4 | _aPediatrics. |
| 650 | 2 | 4 | _aMolecular Medicine. |
| 700 | 1 |
_aMorava, Eva. _eeditor. |
|
| 700 | 1 |
_aBaumgartner, Matthias. _eeditor. |
|
| 700 | 1 |
_aPatterson, Marc. _eeditor. |
|
| 700 | 1 |
_aRahman, Shamima. _eeditor. |
|
| 700 | 1 |
_aZschocke, Johannes. _eeditor. |
|
| 700 | 1 |
_aPeters, Verena. _eeditor. |
|
| 710 | 2 | _aSpringerLink (Online service) | |
| 773 | 0 | _tSpringer eBooks | |
| 776 | 0 | 8 |
_iPrinted edition: _z9783662528464 |
| 830 | 0 |
_aJIMD Reports, _x2192-8304 ; _v28 |
|
| 856 | 4 | 0 |
_zLibro electrónico _uhttp://148.231.10.114:2048/login?url=http://dx.doi.org/10.1007/978-3-662-52847-1 |
| 912 | _aZDB-2-SBL | ||
| 942 | _cLIBRO_ELEC | ||
| 999 |
_c226073 _d226073 |
||