000 | 04030nam a22006135i 4500 | ||
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001 | 978-3-662-53681-0 | ||
003 | DE-He213 | ||
005 | 20180206183137.0 | ||
007 | cr nn 008mamaa | ||
008 | 161103s2016 gw | s |||| 0|eng d | ||
020 |
_a9783662536810 _9978-3-662-53681-0 |
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050 | 4 | _aRB155-155.8 | |
050 | 4 | _aQH431 | |
072 | 7 |
_aMFN _2bicssc |
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_aMED107000 _2bisacsh |
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_a611.01816 _223 |
082 | 0 | 4 |
_a599.935 _223 |
245 | 1 | 0 |
_aJIMD Reports, Volume 30 _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, 108 p. 20 illus., 13 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 ; _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 ?-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 | _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: _z9783662536803 |
830 | 0 |
_aJIMD Reports, _x2192-8304 ; _v30 |
|
856 | 4 | 0 |
_zLibro electrónico _uhttp://148.231.10.114:2048/login?url=http://dx.doi.org/10.1007/978-3-662-53681-0 |
912 | _aZDB-2-SBL | ||
942 | _cLIBRO_ELEC | ||
999 |
_c227857 _d227857 |