分类 发表于 2025-3-21 17:35:56
书目名称JIMD Reports Volume 16影响因子(影响力)<br> http://figure.impactfactor.cn/if/?ISSN=BK0500051<br><br> <br><br>书目名称JIMD Reports Volume 16影响因子(影响力)学科排名<br> http://figure.impactfactor.cn/ifr/?ISSN=BK0500051<br><br> <br><br>书目名称JIMD Reports Volume 16网络公开度<br> http://figure.impactfactor.cn/at/?ISSN=BK0500051<br><br> <br><br>书目名称JIMD Reports Volume 16网络公开度学科排名<br> http://figure.impactfactor.cn/atr/?ISSN=BK0500051<br><br> <br><br>书目名称JIMD Reports Volume 16被引频次<br> http://figure.impactfactor.cn/tc/?ISSN=BK0500051<br><br> <br><br>书目名称JIMD Reports Volume 16被引频次学科排名<br> http://figure.impactfactor.cn/tcr/?ISSN=BK0500051<br><br> <br><br>书目名称JIMD Reports Volume 16年度引用<br> http://figure.impactfactor.cn/ii/?ISSN=BK0500051<br><br> <br><br>书目名称JIMD Reports Volume 16年度引用学科排名<br> http://figure.impactfactor.cn/iir/?ISSN=BK0500051<br><br> <br><br>书目名称JIMD Reports Volume 16读者反馈<br> http://figure.impactfactor.cn/5y/?ISSN=BK0500051<br><br> <br><br>书目名称JIMD Reports Volume 16读者反馈学科排名<br> http://figure.impactfactor.cn/5yr/?ISSN=BK0500051<br><br> <br><br>易改变 发表于 2025-3-21 20:14:14
Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta, was approved by EMA in 2001 and FDA in 2003...: Six patients were enrolled. Baseline data was measured for renal, cardiac, and cerebrovascular functioning. We compared baseline quality of life scales with the current results. These parameters were assessed during the 10 years of follow-up period...不安 发表于 2025-3-22 01:44:06
http://reply.papertrans.cn/51/5001/500051/500051_3.png有其法作用 发表于 2025-3-22 07:58:45
Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosifunction called renal Fanconi syndrome. Urinary carnitine loss results in plasma and muscle carnitine deficiency, but no clinical signs of carnitine deficiency have been described. Also, the optimal dose of carnitine supplementation is undefined. This study aimed to determine whether currently recomClinch 发表于 2025-3-22 12:43:16
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http://reply.papertrans.cn/51/5001/500051/500051_6.png共同确定为确 发表于 2025-3-22 18:51:52
Fibrolamellar Hepatocellular Carcinoma Mimicking Ornithine Transcarbamylase Deficiency,llar hepatocellular carcinoma (FLC). This posed a diagnostic challenge, as she had normal liver function tests and normal looking liver on imaging but with extra hepatic metastases. This case highlights the importance of measuring plasma ammonia levels in all patients presenting with unexplained acu移动 发表于 2025-3-23 00:36:49
Reversal of Respiratory Failure in Both Neonatal and Late Onset Isolated Remethylation Disorders,f both central and peripheral neuropathy and has previously often been considered to herald an irreversible neurological decline. We present three patients, one with methionine synthase (cblG) and two with methyltetrahydrofolate reductase deficiency (MTHFR). One patient with MTHFR presented in infan反省 发表于 2025-3-23 01:44:53
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP),ynthase (HMBS), protoporphyrinogen oxidase (PPOX), and coproporphyrinogen oxidase (CPOX) genes, respectively. This study aimed to identify mutations in seven Bulgarian families with AIP, six with VP, and one with HCP. A total of 33 subjects, both symptomatic (. = 21) and asymptomatic (. = 12), wereImmobilize 发表于 2025-3-23 08:52:56
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