cobble
发表于 2025-3-21 19:30:40
书目名称JIMD Reports, Volume 37影响因子(影响力)<br> http://figure.impactfactor.cn/if/?ISSN=BK0500075<br><br> <br><br>书目名称JIMD Reports, Volume 37影响因子(影响力)学科排名<br> http://figure.impactfactor.cn/ifr/?ISSN=BK0500075<br><br> <br><br>书目名称JIMD Reports, Volume 37网络公开度<br> http://figure.impactfactor.cn/at/?ISSN=BK0500075<br><br> <br><br>书目名称JIMD Reports, Volume 37网络公开度学科排名<br> http://figure.impactfactor.cn/atr/?ISSN=BK0500075<br><br> <br><br>书目名称JIMD Reports, Volume 37被引频次<br> http://figure.impactfactor.cn/tc/?ISSN=BK0500075<br><br> <br><br>书目名称JIMD Reports, Volume 37被引频次学科排名<br> http://figure.impactfactor.cn/tcr/?ISSN=BK0500075<br><br> <br><br>书目名称JIMD Reports, Volume 37年度引用<br> http://figure.impactfactor.cn/ii/?ISSN=BK0500075<br><br> <br><br>书目名称JIMD Reports, Volume 37年度引用学科排名<br> http://figure.impactfactor.cn/iir/?ISSN=BK0500075<br><br> <br><br>书目名称JIMD Reports, Volume 37读者反馈<br> http://figure.impactfactor.cn/5y/?ISSN=BK0500075<br><br> <br><br>书目名称JIMD Reports, Volume 37读者反馈学科排名<br> http://figure.impactfactor.cn/5yr/?ISSN=BK0500075<br><br> <br><br>
lavish
发表于 2025-3-21 21:29:15
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
发表于 2025-3-22 03:06:12
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insert
发表于 2025-3-22 08:33:30
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Alpha-Cells
发表于 2025-3-22 09:18:06
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王得到
发表于 2025-3-22 14:25:09
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
发表于 2025-3-22 20:36:35
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
发表于 2025-3-23 01:00:35
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
发表于 2025-3-23 02:27:23
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花争吵
发表于 2025-3-23 08:05:20
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