Titlebook: JIMD Reports, Volume 37; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 Society for the Study of Inborn Errors of Metabolism (SSI

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書目名稱JIMD Reports, Volume 37影響因子(影響力)




書目名稱JIMD Reports, Volume 37影響因子(影響力)學(xué)科排名




書目名稱JIMD Reports, Volume 37網(wǎng)絡(luò)公開度




書目名稱JIMD Reports, Volume 37網(wǎng)絡(luò)公開度學(xué)科排名




書目名稱JIMD Reports, Volume 37被引頻次




書目名稱JIMD Reports, Volume 37被引頻次學(xué)科排名




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書目名稱JIMD Reports, Volume 37年度引用學(xué)科排名




書目名稱JIMD Reports, Volume 37讀者反饋




書目名稱JIMD Reports, Volume 37讀者反饋學(xué)科排名

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Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutvery low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some residual activity develop the less severe disorder known as Cholesteryl ester storage disorder (CESD). We present the clinical, biochemical, and molecular findings of 23 Spanish patien

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Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features iost frequent disorder of mitochondrial energy production in children. Beside its great variability in clinical, biochemical, and genetic features, LS is pathologically uniformly characterized by multifocal bilateral and symmetric spongiform degeneration of the basal ganglia, brainstem, thalamus, cer

異常

Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS but was readmitted at 58?h of life with mild respiratory distress and increased muscle tone. Neonatal abstinence syndrome because of maternal use of lithium, clomipramine, and quetiapine during pregnancy was suspected, but at 115?h of life she became unresponsive, and an immediate work-up for coma

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Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?, thymine degradation. The spectrum of clinical presentations in subjects with the full biochemical phenotype of DPD deficiency ranges from asymptomatic individuals to severely affected patients suffering from seizures, microcephaly, muscular hypotonia, developmental delay and eye abnormalities..We r

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Clinical and Molecular Variability in Patients with , Variants and Liver Phosphorylase b Kinase Defosphorylase b kinase (PhK) deficiency (GSD IX) can present with hepatomegaly with elevated serum transaminases, ketotic hypoglycemia, hyperlipidemia, and poor growth with considerable variation in clinical severity. PhK is a cAMP-dependent protein kinase that phosphorylates the inactive form of glyc