標(biāo)題: Titlebook: JIMD Reports, Volume 45; Eva Morava,Matthias Baumgartner,Verena Peters Book 2019 Society for the Study of Inborn Errors of Metabolism (SSI [打印本頁(yè)] 作者: 外表 時(shí)間: 2025-3-21 18:36
書(shū)目名稱JIMD Reports, Volume 45影響因子(影響力)
作者: SENT 時(shí)間: 2025-3-21 21:25 作者: 全部逛商店 時(shí)間: 2025-3-22 01:12
2192-8304 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.978-3-662-58646-4978-3-662-58647-1Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: thwart 時(shí)間: 2025-3-22 07:17 作者: Robust 時(shí)間: 2025-3-22 12:06
JIMD Reports, Volume 45978-3-662-58647-1Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: prick-test 時(shí)間: 2025-3-22 14:37 作者: anchor 時(shí)間: 2025-3-22 21:01 作者: 商業(yè)上 時(shí)間: 2025-3-22 23:45 作者: 瑪瑙 時(shí)間: 2025-3-23 01:41 作者: 注視 時(shí)間: 2025-3-23 08:53 作者: 盡忠 時(shí)間: 2025-3-23 13:20
I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Ai tracheal intubation anaesthetic difficulties we encountered, one required intraoperative reintubation, and one suffered a failed intubation with subsequent death. All five patients required oxygen therapy with the use of CPAP and BiPAP also seen. Feeding issues were almost universal with four of th作者: 名詞 時(shí)間: 2025-3-23 16:16 作者: 繁榮中國(guó) 時(shí)間: 2025-3-23 20:48
Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storageactory perception, and four (11%) had decreased taste perception for all flavours. Eight patients (22.2%) had decreased perception for sour taste. Twenty-six patients (72.2%) had FD, and 18 (50%) had OMD. OMD was significantly associated with FD, tube feeding, selective intake, preference for fluid 作者: Binge-Drinking 時(shí)間: 2025-3-24 00:58
Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-C to liver transplantation. No metabolic decompensation occurred in patients with PA and CIT1 intraoperatively or in the immediate post-transplant period on protein-unrestricted diet. Patients with CN1 were receiving an average 8–15?h of phototherapy per day before APOLT and had normal bilirubin leve作者: 庇護(hù) 時(shí)間: 2025-3-24 05:04 作者: 失敗主義者 時(shí)間: 2025-3-24 07:11 作者: 疲勞 時(shí)間: 2025-3-24 11:07 作者: 疲勞 時(shí)間: 2025-3-24 15:36
Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy,. On continuous treatment with NAC and MNZ during the months preceding the acute event, plasma thiosulfate levels ranged from 1.6 to 4?μg/mL (reference range up to 2?μg/mL) and had a mean value of 2.5?μg/mL. During the acute decompensation, thiosulfate levels were 6.7?μg/mL, with hyperlactatemia and作者: AGGER 時(shí)間: 2025-3-24 21:16
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in , due to esting in parents revealed that the father was heterozygous for the variant but unexpectedly the mother did not carry the variant. Microsatellite repeat testing with markers covering chromosome 1 showed that the DPD deficiency in the child is due to paternal uniparental isodisomy. Our report thus ex作者: dandruff 時(shí)間: 2025-3-25 00:59
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucire coagulopathy and hypoalbuminemia without significant defects in liver detoxification or evidence of hepatocellular injury during early phase of the disease. Whole-exome sequencing of child-parent trio identified two inherited missense mutations in . in this patient. One, c.1292T>A; p.Val431Asp, h作者: 學(xué)術(shù)討論會(huì) 時(shí)間: 2025-3-25 05:14 作者: Harbor 時(shí)間: 2025-3-25 10:28 作者: 項(xiàng)目 時(shí)間: 2025-3-25 14:46
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?,an autosomal recessive metabolic disorder with a broad and expanding clinical spectrum, which hampers targeted diagnostics. The current cases illustrate the value of novel genetic testing for rare genetic disorders with neuromuscular phenotypes, especially in case of clinical heterogeneity. We argue作者: 具體 時(shí)間: 2025-3-25 19:26
A Hemizygous Deletion Within the , Gene in Males with PGK1 Deficiency,diagnosis of PGK1 deficiency was established by molecular analysis which detected an approximately 886?kb deletion involving the polyadenylation site in the 3′UTR of the . gene. RNA analysis showed significantly reduced . transcript levels (30% compared to normal). This is the first deletion reporte作者: PHON 時(shí)間: 2025-3-25 22:03 作者: Decimate 時(shí)間: 2025-3-26 02:03
Rachel Edmiston,Stuart Wilkinson,Simon Jones,Karen Tylee,Alexander Broomfield,Iain A. Brucer environmental conditions may also perturb or change over time. For these dynamic and uncertain optimization problems, the o978-3-642-08065-4978-3-540-49774-5Series ISSN 1860-949X Series E-ISSN 1860-9503 作者: 致敬 時(shí)間: 2025-3-26 06:40
Heng Wang,Valerie Sency,Paul McJarrow,Alicia Bright,Qianyang Huang,Karen Cechner,Julia Szekely,JoAnnr environmental conditions may also perturb or change over time. For these dynamic and uncertain optimization problems, the o978-3-642-08065-4978-3-540-49774-5Series ISSN 1860-949X Series E-ISSN 1860-9503 作者: arousal 時(shí)間: 2025-3-26 08:46
Chenia Caldeira Martinez,Tássia Tonon,Tatiéle Nalin,Lilia Farret Refosco,Carolina Fischinger Moura dr environmental conditions may also perturb or change over time. For these dynamic and uncertain optimization problems, the o978-3-642-08065-4978-3-540-49774-5Series ISSN 1860-949X Series E-ISSN 1860-9503 作者: 安裝 時(shí)間: 2025-3-26 15:16
Naresh P. Shanmugam,Joseph J. Valamparampil,Mettu Srinivas Reddy,Khoula Julenda Al Said,Khalid Al-Thr environmental conditions may also perturb or change over time. For these dynamic and uncertain optimization problems, the o978-3-642-08065-4978-3-540-49774-5Series ISSN 1860-949X Series E-ISSN 1860-9503 作者: follicular-unit 時(shí)間: 2025-3-26 17:11
Thomas M. Kitzler,Indra R. Gupta,Bradley Osterman,Chantal Poulin,Yannis Trakadis,Paula J. Waters,Dand derivative pricing, are new and interesting for different target groups. The book also includes informations on web sites, conferences, and computer software.978-3-7908-2512-1978-3-7908-1784-3Series ISSN 1434-9922 Series E-ISSN 1860-0808 作者: Project 時(shí)間: 2025-3-27 00:05
Pehuén Fernández,Shunko Oscar Fernández,Jacqueline Griselda Mariela Gonzalez,Tabaré Fernández,Cinthid derivative pricing, are new and interesting for different target groups. The book also includes informations on web sites, conferences, and computer software.978-3-7908-2512-1978-3-7908-1784-3Series ISSN 1434-9922 Series E-ISSN 1860-0808 作者: 纖細(xì) 時(shí)間: 2025-3-27 04:52
B. Ryder,M. Tolomeo,Z. Nochi,M. Colella,M. Barile,R. K. Olsen,M. Inbar-Feigenbergctice. For example, the ?tness function is uncertain or noisy as a result of simulation errors, measurement errors or approximation errors. In addition, the design variables or environmental conditions may also perturb or change over time. For these dynamic and uncertain optimization problems, the o作者: 運(yùn)動(dòng)的我 時(shí)間: 2025-3-27 05:34
Colin P. Hawkes,Juan J. Lado,Stephanie Givler,Diva D. De Leonctice. For example, the ?tness function is uncertain or noisy as a result of simulation errors, measurement errors or approximation errors. In addition, the design variables or environmental conditions may also perturb or change over time. For these dynamic and uncertain optimization problems, the o作者: 永久 時(shí)間: 2025-3-27 12:14 作者: extemporaneous 時(shí)間: 2025-3-27 16:36
André B. P. van Kuilenburg,Judith Meijer,Rutger Meinsma,Belén Pérez-Due?as,Marielle Alders,Zahurul Aieve a more efficient distribution of entitlements, through the internalisation of pollution costs, the market structure must allow agents to capture these rents..A genetic algorithm is used to emulate trading behaviour of individual agents for emission entitlements. Agents are assumed to operate in作者: Consensus 時(shí)間: 2025-3-27 17:52 作者: LEER 時(shí)間: 2025-3-28 00:25
Molly McPheron,Melissa Lahieve a more efficient distribution of entitlements, through the internalisation of pollution costs, the market structure must allow agents to capture these rents..A genetic algorithm is used to emulate trading behaviour of individual agents for emission entitlements. Agents are assumed to operate in作者: 裂隙 時(shí)間: 2025-3-28 03:39 作者: 廚師 時(shí)間: 2025-3-28 09:24
Andrew Talbot,Kathy Nichollshus, the designer is encouraged to determine the optimal relation between parameter set and design flexibility according to the given task. With respect to the optimization, these mapping terms are considered as parameters. In this chapter, the combination of two state of the art deformation algorit作者: insecticide 時(shí)間: 2025-3-28 10:31
Imre F. Schene,Christoph G. Korenke,Hidde H. Huidekoper,Ludo van der Pol,Dennis Dooijes,Johannes M. ly introduced for dividing PPI networks into small subnets which are likely to contain conserved modules. Next, we perform network alignment on pairs of resulting subnets from different species, and apply an exact search algorithm iteratively on each alignment graph, each time changing the constrain作者: 特征 時(shí)間: 2025-3-28 17:00
Andrea Medrano Behlmann,Namita A. Goyal,Xiaoyu Yang,Ping H. Chen,Arunkanth Ankalain both family-based and case-control datasets. In this manuscript, we demonstrate how LD patterns of the simulated data change under different population growth curve parameter initialization settings. These results provide guidelines to simulate WGA datasets whose properties resemble the HapMap.作者: 很像弓] 時(shí)間: 2025-3-28 20:53 作者: 誹謗 時(shí)間: 2025-3-29 00:29
Rachel Edmiston,Stuart Wilkinson,Simon Jones,Karen Tylee,Alexander Broomfield,Iain A. Bruceis a class of problem optimization methodology with the inspiration from the natural evolution of species. In nature, the population of a species evolves by means of selection and variation. These two principles of natural evolution form the fundamental of evolutionary - gorithms (EAs). During the p作者: CLAP 時(shí)間: 2025-3-29 04:45
Heng Wang,Valerie Sency,Paul McJarrow,Alicia Bright,Qianyang Huang,Karen Cechner,Julia Szekely,JoAnnis a class of problem optimization methodology with the inspiration from the natural evolution of species. In nature, the population of a species evolves by means of selection and variation. These two principles of natural evolution form the fundamental of evolutionary - gorithms (EAs). During the p作者: 四海為家的人 時(shí)間: 2025-3-29 10:10 作者: visual-cortex 時(shí)間: 2025-3-29 12:46
Naresh P. Shanmugam,Joseph J. Valamparampil,Mettu Srinivas Reddy,Khoula Julenda Al Said,Khalid Al-This a class of problem optimization methodology with the inspiration from the natural evolution of species. In nature, the population of a species evolves by means of selection and variation. These two principles of natural evolution form the fundamental of evolutionary - gorithms (EAs). During the p作者: 半導(dǎo)體 時(shí)間: 2025-3-29 17:22 作者: jaundiced 時(shí)間: 2025-3-29 23:07
Colin P. Hawkes,Juan J. Lado,Stephanie Givler,Diva D. De Leonulation of a species evolves by means of selection and variation. These two principles of natural evolution form the fundamental of evolutionary - gorithms (EAs). During the past several decades, EAs have been extensively studied by the computer science and arti?cial intelligence communities. As a c作者: 祝賀 時(shí)間: 2025-3-30 03:05 作者: fulcrum 時(shí)間: 2025-3-30 06:38 作者: anus928 時(shí)間: 2025-3-30 09:17
André B. P. van Kuilenburg,Judith Meijer,Rutger Meinsma,Belén Pérez-Due?as,Marielle Alders,Zahurul Aomic welfare of market participants is linked spatially through production externalities is unclear. Trade will reflect the interaction of bargaining agents whose incentives vary with the relative physical location of both the buyer and seller. For the permit system to internalise the costs of pollu作者: Blemish 時(shí)間: 2025-3-30 14:12 作者: 偽造 時(shí)間: 2025-3-30 18:56 作者: Blasphemy 時(shí)間: 2025-3-30 23:44
Molly McPheron,Melissa Lahomic welfare of market participants is linked spatially through production externalities is unclear. Trade will reflect the interaction of bargaining agents whose incentives vary with the relative physical location of both the buyer and seller. For the permit system to internalise the costs of pollu作者: braggadocio 時(shí)間: 2025-3-31 04:46 作者: DALLY 時(shí)間: 2025-3-31 05:15
Andrew Talbot,Kathy Nichollss which define the search space and the achievable design flexibility is very crucial since it influences the convergence speed of the chosen optimization algorithm as well as the possibility to find the design which provides the best performance. Classical methods mostly define the design directly,作者: Rct393 時(shí)間: 2025-3-31 13:10 作者: muscle-fibers 時(shí)間: 2025-3-31 17:26 作者: Esophagitis 時(shí)間: 2025-3-31 20:26
