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

cobble

书目名称JIMD Reports, Volume 37影响因子(影响力)




书目名称JIMD Reports, Volume 37影响因子(影响力)学科排名




书目名称JIMD Reports, Volume 37网络公开度




书目名称JIMD Reports, Volume 37网络公开度学科排名




书目名称JIMD Reports, Volume 37被引频次




书目名称JIMD Reports, Volume 37被引频次学科排名




书目名称JIMD Reports, Volume 37年度引用




书目名称JIMD Reports, Volume 37年度引用学科排名




书目名称JIMD Reports, Volume 37读者反馈




书目名称JIMD Reports, Volume 37读者反馈学科排名

lavish

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

太空

insert

Alpha-Cells

王得到

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

异常

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

Guileless

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

肉体

花争吵

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