標題: Titlebook: JIMD Reports, Volume 30; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite [打印本頁] 作者: 字里行間 時間: 2025-3-21 17:42
書目名稱JIMD Reports, Volume 30影響因子(影響力)
書目名稱JIMD Reports, Volume 30影響因子(影響力)學科排名
書目名稱JIMD Reports, Volume 30網(wǎng)絡公開度
書目名稱JIMD Reports, Volume 30網(wǎng)絡公開度學科排名
書目名稱JIMD Reports, Volume 30被引頻次
書目名稱JIMD Reports, Volume 30被引頻次學科排名
書目名稱JIMD Reports, Volume 30年度引用
書目名稱JIMD Reports, Volume 30年度引用學科排名
書目名稱JIMD Reports, Volume 30讀者反饋
書目名稱JIMD Reports, Volume 30讀者反饋學科排名
作者: 創(chuàng)新 時間: 2025-3-21 22:44 作者: Gene408 時間: 2025-3-22 02:11 作者: 疲勞 時間: 2025-3-22 06:57
978-3-662-53680-3SSIEM and Springer-Verlag Berlin Heidelberg 2016作者: ADORE 時間: 2025-3-22 11:22
JIMD Reports, Volume 30978-3-662-53681-0Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 留戀 時間: 2025-3-22 16:56 作者: Cpap155 時間: 2025-3-22 17:25
JIMD Reportshttp://image.papertrans.cn/j/image/500068.jpg作者: 夾死提手勢 時間: 2025-3-22 21:23 作者: HACK 時間: 2025-3-23 04:52
https://doi.org/10.1007/978-3-662-53681-0inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic 作者: Arb853 時間: 2025-3-23 08:04 作者: 武器 時間: 2025-3-23 13:42
A New Approach for Fast Metabolic Diagnostics in CMAMMA,fection. MA excretion in the patients was only just above the highest control value in several samples. MA concentrations in plasma from the two patients were clearly above the highest value observed in control subjects. However, MA concentrations in plasma from patients with classic MMAemia were al作者: 起草 時間: 2025-3-23 15:37 作者: intercede 時間: 2025-3-23 21:22 作者: 鴕鳥 時間: 2025-3-23 22:51 作者: 令人悲傷 時間: 2025-3-24 03:32 作者: metropolitan 時間: 2025-3-24 09:11
Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI,mediated reaction. It is important to recognize IgE-mediated reactions since they can be life-threatening and do not respond to the standard therapies. We recommend allergy skin tests in the evaluation of infusion-related reactions unresponsive to standard therapies, so that continuation of ERT will作者: 考得 時間: 2025-3-24 11:21
Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Hete valine were markedly elevated and alloisoleucine was detected. He promptly responded to dialysis and BCAA-free dietetic management and subsequently could resume a normal diet. Since then he has had another symptomatic metabolic crisis with seizures. This case strongly suggests that some recipients 作者: 退潮 時間: 2025-3-24 15:17 作者: 索賠 時間: 2025-3-24 21:19 作者: PON 時間: 2025-3-25 02:43 作者: ELATE 時間: 2025-3-25 04:14 作者: 花費 時間: 2025-3-25 11:29 作者: ALB 時間: 2025-3-25 13:56
Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contertonia, axonal neuropathy, and hand contractures. Neuropathy was complicated by non-healing wounds. Fasting plasma amino acids showed low serine and glycine. Molecular analysis revealed compound heterozygous mutations in phosphoserine phosphatase (.). Treatment with oral serine resulted in improvem作者: 冷淡一切 時間: 2025-3-25 18:36 作者: 鞏固 時間: 2025-3-25 20:55 作者: 抒情短詩 時間: 2025-3-26 02:43 作者: 藕床生厭倦 時間: 2025-3-26 08:03
Heather M. Byers,Robin L. Bennett,Emily A. Malouf,Michael D. Weiss,Jie Feng,C. Ronald Scott,Suman Jaive languages, was considered a testimony to the relative antiquity of cultivation of the crop. Finally, historical description, such as the treatises of Dioscorides and Theophrastus, the herbals of the 16th and 17th centuries, or descriptions of the New World shortly after the Spanish Conquista by,作者: happiness 時間: 2025-3-26 10:04 作者: Pert敏捷 時間: 2025-3-26 16:29
Monique G. M. de Sain-van der Velden,Maria van der Ham,Judith J. Jans,Gepke Visser,Hubertus C. M. T.作者: Hirsutism 時間: 2025-3-26 18:28 作者: 先行 時間: 2025-3-26 23:58 作者: extrovert 時間: 2025-3-27 01:47
Marcus J. Miller,Bret L. Bostwick,Adam D. Kennedy,Taraka R. Donti,Qin Sun,V. Reid Sutton,Sarah H. El作者: menopause 時間: 2025-3-27 05:22 作者: 簡略 時間: 2025-3-27 11:53
Zeynep Tamay,Gulden Gokcay,Fatih Dilek,Mehmet Cihan Balci,Deniz Ozceker,Mubeccel Demirkol,Nermin Gul作者: Orchiectomy 時間: 2025-3-27 14:23 作者: 柔聲地說 時間: 2025-3-27 19:39 作者: 道學氣 時間: 2025-3-28 00:18 作者: Hectic 時間: 2025-3-28 03:04
John M. Schreiber,Phillip L. Pearl,Irene Dustin,Edythe Wiggs,Emily Barrios,Eric M. Wassermann,K. Mic作者: cancer 時間: 2025-3-28 06:55 作者: aesthetic 時間: 2025-3-28 13:43
Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Counder the care of the adult inherited metabolic disorder physicians prior to becoming pregnant. She and her partner received prenatal counselling and following spontaneous conception was closely managed by a multidisciplinary team involving foetomaternal obstetricians, anaesthetists, cardiologists, 作者: Arthr- 時間: 2025-3-28 16:24 作者: NATAL 時間: 2025-3-28 19:30
A New Approach for Fast Metabolic Diagnostics in CMAMMA,c and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia). Detection of MA in urine, however, is challenging since excretion of MA can be easily missed. The objective of the study was to develop a method for quantificatio作者: 眉毛 時間: 2025-3-29 01:32 作者: surrogate 時間: 2025-3-29 05:36 作者: 愛管閑事 時間: 2025-3-29 07:19 作者: anatomical 時間: 2025-3-29 14:48 作者: intolerance 時間: 2025-3-29 16:35 作者: 暫時過來 時間: 2025-3-29 20:14 作者: 確定的事 時間: 2025-3-30 03:06 作者: 一個姐姐 時間: 2025-3-30 04:13 作者: 赤字 時間: 2025-3-30 11:42
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency,ility as measured by transcranial magnetic stimulation (TMS) and improved cognition, due to taurine’s partial GABA(A and B) receptor agonist effects and rescue in the null mouse model from status epilepticus and premature lethality...: Biomarkers including neuropsychological testing, TMS, and CSF me作者: 中國紀念碑 時間: 2025-3-30 13:39 作者: palliative-care 時間: 2025-3-30 18:10 作者: 躲債 時間: 2025-3-30 23:26 作者: 細胞學 時間: 2025-3-31 01:27
Haiqing Yi,Quan Zhang,Chunyu Yang,Priya S. Kishnani,Baodong Suns of evolutionary theory.* I agree with Depew and Weber’s characterization: the synthetic theory of evolution is . mainly a predictive or retrodictive theory, but a . favoring work within the confines of a particular research program. In other words, the synthetic theory is better viewed as a suprat作者: choroid 時間: 2025-3-31 06:22
Uri Zilberman,Haim Bibis of evolutionary theory.* I agree with Depew and Weber’s characterization: the synthetic theory of evolution is . mainly a predictive or retrodictive theory, but a . favoring work within the confines of a particular research program. In other words, the synthetic theory is better viewed as a suprat作者: 和音 時間: 2025-3-31 11:22
Heather M. Byers,Robin L. Bennett,Emily A. Malouf,Michael D. Weiss,Jie Feng,C. Ronald Scott,Suman Ja, of individual crops. In his opinion, the following four types of data would shed light on this question: (1) archaeology; (2) botany; (3) philology or linguistics; and (4) history. Of these four types of data, the first two are the most reliable (Harlan and de Wet, 1973). Archaeological remains at作者: 雜役 時間: 2025-3-31 16:04
