繁荣中国 发表于 2025-3-23 12:35:25
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, is more common than in the normal population... The growth velocity showed acceleration after diagnosis and the start of treatment, followed by a period of stable or decelerated growth. The majority of the patients developed overweight to a greater extent than children without LCHAD deficiency. Sev指派 发表于 2025-3-23 17:24:29
Fabry Disease in Latin America: Data from the Fabry Registry,rsus 39% of women, respectively. Thirty-one percent of men and 22% of women in Latin America reported experiencing a significant cardiovascular, renal, or cerebrovascular event, at a mean age of 35 ± 12.6 years in men and 44 ± 12.3 years in women. Cardiovascular events were the most common type of iobsession 发表于 2025-3-23 21:14:22
,Questioning the Pathogenic Role of the , p.Ala143Thr “Mutation” in Fabry Disease: Implications for ft ventricular hypertrophy and kidney biopsies in two males with renal failure and microalbuminuria lacked Gb-3 deposits. The literature data on this mutation as well as data collected in the Fabry Outcome Survey (FOS) database confirm these findings. The association of renal failure, stroke, and leconfiguration 发表于 2025-3-24 02:05:29
A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria,d of a 30 % reduction in Phe, 9 % of those on placebo achieved this effect, compared with 44 % of the treated group after 6 weeks. Phe tolerance and variability were improved in treated participants in studies assessing those outcomes. No comparative studies assessed long-term outcomes including cogbronchodilator 发表于 2025-3-24 06:08:38
Neonatal Bone Marrow Transplantation in MPS IIIA Mice,atterns of GFP. normal or MPS IIIA donor–derived cells were observed throughout the MPS IIIA mouse brain. We demonstrate that .-sulfoglucosamine sulfohydrolase (SGSH), the enzyme deficient in MPS IIIA, is produced and secreted in a manner proportional to that of other lysosomal enzymes. However, des精美食品 发表于 2025-3-24 07:20:33
Barriers to Transplantation in Adults with Inborn Errors of Metabolism,not had patients with IEM passed over on the transplant list but four of these eight had not referred a patient for transplantation. 4/13 centers had patients passed over on the transplant list and reasons cited included: (a) transplant team not comfortable with underlying disease, (b) cognitive imp分解 发表于 2025-3-24 13:22:47
http://reply.papertrans.cn/51/5001/500046/500046_17.png充满装饰 发表于 2025-3-24 18:39:59
W. Terryn M.D.,R. Vanholder,D. Hemelsoet,B. P. Leroy,W. Van Biesen,G. De Schoenmakere,B. Wuyts,K. Clnullify 发表于 2025-3-24 20:46:56
Mary Lou Lindegren M.D.,Shanthi Krishnaswami MBBS, M.P.H.,Tyler Reimschisel M.D.,Christopher FonnesbBarter 发表于 2025-3-25 00:03:12
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