Titlebook: JIMD Reports, Volume 42; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI

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書目名稱JIMD Reports, Volume 42影響因子(影響力)




書目名稱JIMD Reports, Volume 42影響因子(影響力)學(xué)科排名




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書目名稱JIMD Reports, Volume 42讀者反饋學(xué)科排名

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A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Associenesis of GCT formation. At age 19?years he required a repeat operation for local recurrence. He currently continues on G-CSF and was commenced on denosumab for control of the GCT with no recurrence to date. A cause and effect relationship between G-CSF therapy and the development of GCT in GSD type 1b remains to be established.

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Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients,ase with age...: In our patients, a progressive coagulopathy was the most sensitive parameter of liver dysfunction. Nodular fibrosis of the liver developed over the natural course of TALDO. This is the first report of long-term systematic clinical and biochemical monitoring of the disease progress in patients with TALDO.

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2192-8304 tabolic disorders.All contributions rigorously peer-reviewedJIMD 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 clinica

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978-3-662-58364-7Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

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JIMD Reports, Volume 42978-3-662-58365-4Series ISSN 2192-8304 Series E-ISSN 2192-8312

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Eva Morava,Matthias Baumgartner,Verena PetersUnique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed

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