opioid 发表于 2025-3-21 19:57:30
书目名称JIMD Reports, Volume 34影响因子(影响力)<br> http://figure.impactfactor.cn/if/?ISSN=BK0500072<br><br> <br><br>书目名称JIMD Reports, Volume 34影响因子(影响力)学科排名<br> http://figure.impactfactor.cn/ifr/?ISSN=BK0500072<br><br> <br><br>书目名称JIMD Reports, Volume 34网络公开度<br> http://figure.impactfactor.cn/at/?ISSN=BK0500072<br><br> <br><br>书目名称JIMD Reports, Volume 34网络公开度学科排名<br> http://figure.impactfactor.cn/atr/?ISSN=BK0500072<br><br> <br><br>书目名称JIMD Reports, Volume 34被引频次<br> http://figure.impactfactor.cn/tc/?ISSN=BK0500072<br><br> <br><br>书目名称JIMD Reports, Volume 34被引频次学科排名<br> http://figure.impactfactor.cn/tcr/?ISSN=BK0500072<br><br> <br><br>书目名称JIMD Reports, Volume 34年度引用<br> http://figure.impactfactor.cn/ii/?ISSN=BK0500072<br><br> <br><br>书目名称JIMD Reports, Volume 34年度引用学科排名<br> http://figure.impactfactor.cn/iir/?ISSN=BK0500072<br><br> <br><br>书目名称JIMD Reports, Volume 34读者反馈<br> http://figure.impactfactor.cn/5y/?ISSN=BK0500072<br><br> <br><br>书目名称JIMD Reports, Volume 34读者反馈学科排名<br> http://figure.impactfactor.cn/5yr/?ISSN=BK0500072<br><br> <br><br>LAP 发表于 2025-3-22 00:17:40
http://reply.papertrans.cn/51/5001/500072/500072_2.png玉米棒子 发表于 2025-3-22 04:15:23
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965 method has undergone a continuous development with not only improvements of the positive predictive value but also identification of milder forms of the disease. With the introduction of genetic testing the confirmation of the diagnosis has improved. The Swedish NBS is centralized to one laboratoryfiction 发表于 2025-3-22 05:37:33
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansionnd developmental delay. Investigations of these patients revealed associated abnormal findings on brain imaging, elevated CK, abnormal clotting factors and mildly deranged serum transaminases. We describe the ninth case of DMP1-CDG, whose clinical presentation includes severe gastrointestinal involv从属 发表于 2025-3-22 10:13:32
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review,). The disease is life threatening if left untreated in neonates and the only available treatment option is a long-term galactose restricted diet. While this is lifesaving in the neonate, complications persist in treated individuals, and the cause of these, despite early initiation of treatment, andBADGE 发表于 2025-3-22 15:17:49
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http://reply.papertrans.cn/51/5001/500072/500072_7.png寻找 发表于 2025-3-22 22:19:01
Paracentric Inversion of Chromosome 21 Leading to Disruption of the , Gene in a Family with Holocars including metabolic acidosis, ketosis, and hyperammonemia. A majority of HLCS deficiency patients respond to biotin therapy; however, some patients show only a partial or no response to biotin therapy. Here, we report a neonatal presentation of HLCS deficiency with partial response to biotin theraGraphite 发表于 2025-3-23 03:17:04
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