土坯
发表于 2025-3-28 15:23:34
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芳香一点
发表于 2025-3-28 20:58:22
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Chilled two loss-of-function mutations in . in trans: c.438delC (p.T147Rfs*22) and c.442C>T (p.R148X), confirmed by Sanger sequencing. One of these mutations is novel (c.438delC). This case contributes to refining the MEGDEL phenotype.
繁荣地区
发表于 2025-3-28 23:01:12
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect, defect. This strongly supports the hypothesis that 3-methylglutaconic aciduria is independent from leucine breakdown in other inborn errors of metabolism with 3-methylglutaconic aciduria and also provides a simple test to discriminate between primary and secondary 3-methylglutaconic aciduria in reg
噱头
发表于 2025-3-29 03:39:54
Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta,diographic values did not present progression to LVH and one female showed regression to normal values of LV posterior wall and interventricular septum. Brain MRI showed ischemic lesions in one female and vertebrobasilar dolichoectasia in one male. From baseline and during the follow-up period MRI d
Hemodialysis
发表于 2025-3-29 07:59:13
Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII,e measured in the blood from control subjects and patients with MPS IVA and VII aged from 0 to 58 years of age. We also assayed KS levels in the same samples for comparison with C6S..Levels of C6S in the blood decreased with age and were significantly elevated in patients with MPS IVA and VII, compa
不适
发表于 2025-3-29 15:25:23
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licence
发表于 2025-3-29 17:21:27
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碳水化合物
发表于 2025-3-29 20:41:26
Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I,ony assessed by 2D speckle tracking imaging, the maximum time delay of contraction decreased from 148 to 14 ms. In addition, the LV weight significantly correlated with the E/A ratio (. < 0.001, . = 0.63), DcT (. < 0.05, . = 0.48), and contraction synchrony (. < 0.001, . = 0.61), respectively. This
自作多情
发表于 2025-3-30 02:50:07
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Colonoscopy
发表于 2025-3-30 05:25:32
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