派博傳思國際中心

標(biāo)題: Titlebook: JIMD Reports, Volume 27; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite [打印本頁]

作者: 氣泡    時(shí)間: 2025-3-21 17:12
書目名稱JIMD Reports, Volume 27影響因子(影響力)




書目名稱JIMD Reports, Volume 27影響因子(影響力)學(xué)科排名




書目名稱JIMD Reports, Volume 27網(wǎng)絡(luò)公開度




書目名稱JIMD Reports, Volume 27網(wǎng)絡(luò)公開度學(xué)科排名




書目名稱JIMD Reports, Volume 27被引頻次




書目名稱JIMD Reports, Volume 27被引頻次學(xué)科排名




書目名稱JIMD Reports, Volume 27年度引用




書目名稱JIMD Reports, Volume 27年度引用學(xué)科排名




書目名稱JIMD Reports, Volume 27讀者反饋




書目名稱JIMD Reports, Volume 27讀者反饋學(xué)科排名





作者: 后退    時(shí)間: 2025-3-21 21:53

作者: JUST    時(shí)間: 2025-3-22 00:25
, Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patlic carnitine and lactate are increased in both plasma and urine. Thus far, eight different disease-causing . mutations, of which six missense mutations and two splice site mutations, have been described in the literature. Here, we present the first patient with an intragenic deletion in . and review the patients described in literature.
作者: stratum-corneum    時(shí)間: 2025-3-22 04:45
Further Delineation of the ALG9-CDG Phenotype,global atrophy with delayed myelination. Exome sequencing identified a novel homozygous mutation c.1075G>A, p.E359K of the ALG9 gene. The results of our analysis of these patients expand the knowledge of ALG9-CDG phenotype.
作者: growth-factor    時(shí)間: 2025-3-22 10:55

作者: 我正派    時(shí)間: 2025-3-22 13:21
JIMD Reports, Volume 27978-3-662-50409-3Series ISSN 2192-8304 Series E-ISSN 2192-8312
作者: 沒有準(zhǔn)備    時(shí)間: 2025-3-22 20:00

作者: HEED    時(shí)間: 2025-3-22 21:57
JIMD Reportshttp://image.papertrans.cn/j/image/500065.jpg
作者: legacy    時(shí)間: 2025-3-23 04:19
Book 2016JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
作者: 你不公正    時(shí)間: 2025-3-23 07:58

作者: FER    時(shí)間: 2025-3-23 10:13
Detailed Biochemical and Bioenergetic Characterization of ,-Related Encephalomyopathic Mitochondriaunder obligate aerobic respiration, and reduced mitochondrial inner membrane potential, with relative sparing of mitochondrial mass. Cultured fibroblasts from the patient exhibited a more oxidized glutathione ratio, consistent with altered cellular redox poise. High-resolution respirometry of permea
作者: 全部逛商店    時(shí)間: 2025-3-23 15:19
Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblastboth in a time- and concentration-dependent manner. To assess the use of our protocol for analysis of HDFs from patients with inherited diseases, we analysed HDFs from two patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD), one with a severe clinical phenotype and one w
作者: Mirage    時(shí)間: 2025-3-23 18:16

作者: 陰險(xiǎn)    時(shí)間: 2025-3-23 23:10
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles,n mechanism. Interestingly, six newborns among the seven tested for plasma amino acids had pronounced hyperprolinemia. In one case, because the initial diagnostic workup did not include organic acids and acylcarnitine profiling, clinical presentation and hyperprolinemia suggested the diagnosis. Anal
作者: gangrene    時(shí)間: 2025-3-24 05:05

作者: fastness    時(shí)間: 2025-3-24 09:19

作者: 休息    時(shí)間: 2025-3-24 13:11
No Evidence for Association of , Heterozygosity with High-Grade Myopia or Other Diseases with Possias found in mice carrying E129K (corresponding to E140K in humans) knock-in mutations. The prevalence of E140K carriers in the symptomatic cohort was evaluated as 1:103 (CI: 0.44–2.09) and did not differ significantly from the population prevalence (1:147, CI: 0.45–1.04)..Our study demonstrates that
作者: 體貼    時(shí)間: 2025-3-24 17:10
Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice,ed poor coordination (.? 作者: 炸壞    時(shí)間: 2025-3-24 22:06

作者: nonradioactive    時(shí)間: 2025-3-25 02:02
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from th Gaucher disease (4.2%)). Amongst the disorders that can present with acute metabolic decompensation, the urea cycle disorders, specifically ornithine transcarbamylase deficiency, were most common (2.2%), followed by glycogen storage disease type I (1.5%) and maple syrup urine disease (1.1%). Patien
作者: Estrogen    時(shí)間: 2025-3-25 06:50

作者: NICE    時(shí)間: 2025-3-25 08:18
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency,e cutoff to ≥0.023 resulted in a sensitivity of 93% and a positive predictive value of 37%. The sensitivity of the previously used screening approach (C14:1 ≥0.8) was 50%...: This study shows that the ratio C14:1/C2 is a more sensitive marker than C14:1 for identifying VLCADD patients in NBS. Howeve
作者: Crayon    時(shí)間: 2025-3-25 15:36
t is desired that an MOEA generates MOP solutions in . which provide a trade-off of performance (efficiency, effectiveness) for specific system model objectives (cost/profit, constraints, etc.) that may mutually conflict. For example, the classical multiobjective knapsack problem (profit and weight)
作者: Lacerate    時(shí)間: 2025-3-25 19:34
Ghadi Antoun,Skye McBride,Jason R. Vanstone,Turaya Naas,Jean Michaud,Stephanie Redpath,Hugh J. McMils, considerable effort must be spent not only in defining proper MOP tests and in generating the proper design of MOEA experiments, but also in employing the appropriate performance measures and experiment conditions, as well as the proper statistical tools that allow a fair algorithmic comparison.
作者: entice    時(shí)間: 2025-3-25 21:24

作者: Iniquitous    時(shí)間: 2025-3-26 03:57
Paula Fernandez-Guerra,M. Lund,T. J. Corydon,N. Cornelius,N. Gregersen,J. Palmfeldt,Peter Brosses basic principles of EAs and provides someeasy-to-understand examples. Furthermore, a theoretical model formulti-objective optimization is presented. In the second part asoftware implementation of EAs is supplied together with detaileddescriptions of several EA applications. These applications cover awide r978-1-4419-5040-6978-1-4757-2866-8
作者: 意見一致    時(shí)間: 2025-3-26 08:05
Roeltje R. Maas,Adela Della Marina,Arjan P. M. de Brouwer,Ron A. Wevers,Richard J Rodenburg,Saskia Brinciples of EAs and provides someeasy-to-understand examples. Furthermore, a theoretical model formulti-objective optimization is presented. In the second part asoftware implementation of EAs is supplied together with detaileddescriptions of several EA applications. These applications cover awide r
作者: N斯巴達(dá)人    時(shí)間: 2025-3-26 08:42

作者: 色情    時(shí)間: 2025-3-26 15:46

作者: Interdict    時(shí)間: 2025-3-26 18:09
Emma S. Reid,Hywel Williams,Polona Le Quesne Stabej,Chela James,Louise Ocaka,Chiara Bacchelli,Emma Jaracteristic may be used to reduce the generally higher CPU-requirements of population-based search methods like GA as opposed to point-based traditional optimisation techniques in stochastic problems. Though being in good agreement with earlier empirical results on sampling based evaluation, this i
作者: 熱心助人    時(shí)間: 2025-3-26 23:02

作者: meditation    時(shí)間: 2025-3-27 04:17
Agata Fiumara,Rita Barone,Giuliana Del Campo,Pasquale Striano,Jaak Jaekenn response to others’ actions in any week, we examine the adaptive strategic behaviour of the three largest sellers. We model the sellers’ strategic behaviours as finite automata with memory of previous weeks’ actions, and use the Axelrod/Forrest representation of the action function, mapping state
作者: 天空    時(shí)間: 2025-3-27 09:05
Eugene Diekman,Monique de Sain-van der Velden,Hans Waterham,Leo Kluijtmans,Peter Schielen,Evert Ben n response to others’ actions in any week, we examine the adaptive strategic behaviour of the three largest sellers. We model the sellers’ strategic behaviours as finite automata with memory of previous weeks’ actions, and use the Axelrod/Forrest representation of the action function, mapping state
作者: 水汽    時(shí)間: 2025-3-27 09:44
Sarah AlSubhi,Amal AlHashem,Anas AlAzami,Kalthoum Tlili,Saad AlShahwan,Dirk Lefeber,Fowzan S. Alkurature and thus likely controlled and stopped, as our experiments in the first part of this book suggest. The same methodology can be used not only in laboratory conditions on a single PC, but also on virus spreading over the network or Internet, if real data is available. Ideas and results of this ch
作者: 單片眼鏡    時(shí)間: 2025-3-27 16:39
Clément Pontoizeau,Florence Habarou,Ana?s Brassier,Alice Veauville-Merllié,Coraline Grisel,Jean-Bapt
作者: 緩和    時(shí)間: 2025-3-27 18:16
Henning Stockmann,Karen P. Coss,M. Estela Rubio-Gozalbo,Ina Knerr,Maria Fitzgibbon,Ashwini Maratha,J
作者: Bumptious    時(shí)間: 2025-3-28 00:38

作者: largesse    時(shí)間: 2025-3-28 05:43

作者: 新手    時(shí)間: 2025-3-28 08:28

作者: Ingenuity    時(shí)間: 2025-3-28 14:09

作者: ACME    時(shí)間: 2025-3-28 14:47
Ghadi Antoun,Skye McBride,Jason R. Vanstone,Turaya Naas,Jean Michaud,Stephanie Redpath,Hugh J. McMiliency). What is a MOEA test? Should we use a multi-objective optimization problem (MOP) test function, a MOP test suite, pedagogical functions, or a real-world problem? How to find an appropriate MOEA test?.Should we rely on the MOEA literature, on historical use, on test generators, or on well know
作者: 漫步    時(shí)間: 2025-3-28 21:15
P. Bala,S. Ferdinandusse,S. E. Olpin,P. Chetcuti,A. A. M. Morrispast. While some of these methods have been shown towork well in applications and have become somewhat established overthe years, other techniques have been ignored. .Recently, there has been a growing interest in optimization algorithmsbased on principles observed in nature, termed Evolutionary Alg
作者: Generosity    時(shí)間: 2025-3-28 23:30
Paula Fernandez-Guerra,M. Lund,T. J. Corydon,N. Cornelius,N. Gregersen,J. Palmfeldt,Peter Brosspast. While some of these methods have been shown towork well in applications and have become somewhat established overthe years, other techniques have been ignored. .Recently, there has been a growing interest in optimization algorithmsbased on principles observed in nature, termed Evolutionary Alg
作者: bile648    時(shí)間: 2025-3-29 05:14

作者: ITCH    時(shí)間: 2025-3-29 09:45

作者: 能得到    時(shí)間: 2025-3-29 13:09
Priscila Nicolao Mazzola,Vibeke Bruinenberg,Karen Anjema,Danique van Vliet,Carlos Severo Dutra-Filhorketing databases provide a rich source of historical evidence of such behaviour. This paper uses such data to examine how players in iterated oligopolies respond to their rivals’ behaviour, and uses machine learning to derive improved contingent strategies for such markets, in order to provide insi
作者: 碌碌之人    時(shí)間: 2025-3-29 19:26

作者: 橫條    時(shí)間: 2025-3-29 20:12

作者: ACRID    時(shí)間: 2025-3-30 01:37

作者: 外星人    時(shí)間: 2025-3-30 07:11

作者: Bmd955    時(shí)間: 2025-3-30 11:49

作者: 伙伴    時(shí)間: 2025-3-30 15:42

作者: 新陳代謝    時(shí)間: 2025-3-30 19:20
Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblastetiology, prognosis and assessing of treatment options. Here we present a cell phenotyping protocol using image cytometry that combines measurements of crucial cellular and mitochondrial parameters: (1) cell number and viability, (2) thiol redox status (TRS), (3) mitochondrial membrane potential (MM
作者: 廚房里面    時(shí)間: 2025-3-31 00:04
, Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Pat and ADP in the Krebs cycle. Disruption of . function can lead to mitochondrial DNA depletion. Patients with a . mutation present with a rare but distinctive deafness-dystonia syndrome. Additionally, they exhibit elevated levels of the characteristic biochemical markers: methylmalonate, C4-dicarboxy
作者: 遺棄    時(shí)間: 2025-3-31 04:09

作者: Compassionate    時(shí)間: 2025-3-31 05:28

作者: CUMB    時(shí)間: 2025-3-31 11:26

作者: LEVER    時(shí)間: 2025-3-31 13:51
Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemebral edema. However, the underlying mechanism of brain cytotoxicity remains controversial. Our objective is to present an unusual acute hyperammonemic crisis suggesting a key role of brain glutamine to mediate ammonia neurotoxicity and the interest of intracerebral pressure (ICP) monitoring to main
作者: Amendment    時(shí)間: 2025-3-31 19:17

作者: 傀儡    時(shí)間: 2025-4-1 00:40
Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice,wn to improve brain function in hyperphenylalaninemia and neurodegenerative diseases. This study aimed to verify the effects of exercise on coordination and balance, plasma and brain amino acid levels, and brain oxidative stress markers in PKU mice...: Twenty wild-type (WT) and 20 PAH. (PKU) C57BL/6
作者: strdulate    時(shí)間: 2025-4-1 05:09
Seizures Due to a , Mutation: Treatment with Vitamin B,,n idiopathic epilepsy. Whole-exome sequencing was used to identify a . mutation (c.629G>A; p.Arg210His) in . in a 7-year-old patient whose neonatal seizures showed a response to pyridoxine and who had a high plasma to CSF pyridoxal 5′-phosphate ratio, usually indicative of an inborn error of vitamin
作者: venous-leak    時(shí)間: 2025-4-1 07:35

作者: 慢慢啃    時(shí)間: 2025-4-1 10:32
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycoe usually multisystem diseases, and in the majority of patients, there is an important neurological involvement comprising psychomotor disability, hypotonia, ataxia, seizures, stroke-like episodes, and peripheral neuropathy. To assess the incidence, among early-onset epileptic encephalopathies (EOEE




歡迎光臨 派博傳思國際中心 (http://www.pjsxioz.cn/) Powered by Discuz! X3.5
定南县| 穆棱市| 白银市| 宣威市| 兴义市| 嘉荫县| 满城县| 玉山县| 湘潭县| 会宁县| 鹤山市| 永川市| 仲巴县| 旬邑县| 古浪县| 建湖县| 卫辉市| 濮阳县| 类乌齐县| 盐亭县| 蓬莱市| 丹江口市| 彰化市| 怀远县| 昌都县| 滕州市| 安多县| 阿尔山市| 敦煌市| 运城市| 彭阳县| 桦南县| 信丰县| 连江县| 兴海县| 三江| 玉田县| 文水县| 清河县| 林口县| 宽甸|