000 | 04011nam a22006135i 4500 | ||
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001 | 978-3-662-50409-3 | ||
003 | DE-He213 | ||
005 | 20180206183126.0 | ||
007 | cr nn 008mamaa | ||
008 | 160505s2016 gw | s |||| 0|eng d | ||
020 |
_a9783662504093 _9978-3-662-50409-3 |
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050 | 4 | _aRB155-155.8 | |
050 | 4 | _aQH431 | |
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_aMFN _2bicssc |
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_a611.01816 _223 |
082 | 0 | 4 |
_a599.935 _223 |
245 | 1 | 0 |
_aJIMD Reports, Volume 27 _h[recurso electrónico] / _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. |
250 | _a1st ed. 2016. | ||
264 | 1 |
_aBerlin, Heidelberg : _bSpringer Berlin Heidelberg : _bImprint: Springer, _c2016. |
|
300 |
_aVI, 112 p. 28 illus., 14 illus. in color. _bonline resource. |
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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 |
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490 | 1 |
_aJIMD Reports, _x2192-8304 ; _v27 |
|
505 | 0 | _aDetailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion -- Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency -- Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders -- SUCLA2< Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) -- Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD) -- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles -- IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia -- Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency -- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction -- Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice -- Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 -- The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group -- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) -- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency -- Further Delineation of the ALG9-CDG Phenotype. | |
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: _z9783662504086 |
830 | 0 |
_aJIMD Reports, _x2192-8304 ; _v27 |
|
856 | 4 | 0 |
_zLibro electrónico _uhttp://148.231.10.114:2048/login?url=http://dx.doi.org/10.1007/978-3-662-50409-3 |
912 | _aZDB-2-SBL | ||
942 | _cLIBRO_ELEC | ||
999 |
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