JIMD reports.. Volume 27
Morava, Eva.

FindBook      Google Book      Amazon      博客來     
  • JIMD reports.. Volume 27
  • 紀錄類型: 書目-電子資源 : Monograph/item
    正題名/作者: JIMD reports./ edited by Eva Morava ... [et al.].
    其他作者: Morava, Eva.
    出版者: Berlin, Heidelberg :Springer Berlin Heidelberg : : 2016.,
    面頁冊數: vi, 112 p. :ill., digital ;24 cm.
    內容註: Detailed 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.
    Contained By: Springer eBooks
    標題: Metabolism, Inborn errors of. -
    電子資源: http://dx.doi.org/10.1007/978-3-662-50409-3
    ISBN: 9783662504093
館藏地:  出版年:  卷號: 
館藏
  • 1 筆 • 頁數 1 •
 
W9280560 電子資源 11.線上閱覽_V 電子書 EB RC627.8 .J61 2016 一般使用(Normal) 在架 0
  • 1 筆 • 頁數 1 •
多媒體
評論
Export
取書館
 
 
變更密碼
登入