標題: Titlebook: JIMD Reports, Volume 43; Eva Morava,Matthias Baumgartner,Verena Peters Book 2019 Society for the Study of Inborn Errors of Metabolism (SSI [打印本頁] 作者: 法令 時間: 2025-3-21 18:53
書目名稱JIMD Reports, Volume 43影響因子(影響力)
書目名稱JIMD Reports, Volume 43影響因子(影響力)學科排名
書目名稱JIMD Reports, Volume 43網(wǎng)絡(luò)公開度
書目名稱JIMD Reports, Volume 43網(wǎng)絡(luò)公開度學科排名
書目名稱JIMD Reports, Volume 43被引頻次
書目名稱JIMD Reports, Volume 43被引頻次學科排名
書目名稱JIMD Reports, Volume 43年度引用
書目名稱JIMD Reports, Volume 43年度引用學科排名
書目名稱JIMD Reports, Volume 43讀者反饋
書目名稱JIMD Reports, Volume 43讀者反饋學科排名
作者: Aqueous-Humor 時間: 2025-3-21 21:43
Jana Matic,Nina A. Zeltner,Johannes H?berle vehicles including new constraints, denoted VRP-HFCC. This problem is defined by a set of customers that have to be served by a mixed fleet of vehicles composed of heterogenous fleet of Electric Vehicles (EVs) with distinct battery capacities and operating costs, and a set of identical Conventional作者: 山崩 時間: 2025-3-22 01:54 作者: 發(fā)起 時間: 2025-3-22 05:06
Mary Kay Koenig,Penelope E. Bonnenal disciplines including Artificial Intelligence. This paper investigates the performance of a novel Ant Colony Optimization (ACO) algorithm for the realization (compilation) of nearest-neighbor compliant quantum circuits of minimum duration. In fact, current technological limitations (e.g., decoher作者: padding 時間: 2025-3-22 11:27
Louise Crowe,Vicki Anderson,Winita Hardikar,Avihu Bonehimulation of a process under various scenarios. Thus, good solutions should not only achieve good objective function values, but they must be robust (low variance) across all different scenarios. Previous work has revealed the effectiveness of . for this task. However, the operators used by . to gen作者: 不出名 時間: 2025-3-22 15:59
Ningning Guo,Victor DeAngelis,Changzhi Zhu,Edward H. Schuchman,Calogera M. Simonaroms like the Traveling Salesman Problem, the Vehicle Routing Problem, etc., is the fact that the basic equation of the Particle Swarm Optimization algorithm is suitable for continuous optimization problems and the transformation of this equation in the discrete space may cause loose of information an作者: 厭食癥 時間: 2025-3-22 19:51
Teruo Miyazaki,Hironori Nagasaka,Haruki Komatsu,Ayano Inui,Ichiro Morioka,Hirokazu Tsukahara,Shunsakll the solutions fulfilling the gene transmission property: the value of any variable in the offspring must be inherited from one of the parents. This set of solutions coincides with the largest dynastic potential for the two parent solutions of any recombination operator with the gene transmission 作者: 小爭吵 時間: 2025-3-23 00:09
C. A. Stutterd,N. J. Lake,H. Peters,P. J. Lockhart,R. J. Taft,M. S. van der Knaap,A. Vanderver,D. R.son Problem (TSP) is no exception. We apply three state-of-the-art heuristic solvers to a large set of TSP instances of varying structure and size, identifying which heuristics solve specific instances to optimality faster than others. The first two solvers considered are variants of the multi-trial作者: inconceivable 時間: 2025-3-23 02:38
Douglas Bush,Leighann Sremba,Kate Lomax,Jill Lipsett,David Ketteridge,Drago Bratkovic,Yazmin Enchauthe two machines are equal. This case is interesting because it occurs in various applications, e.g., when one machine is a packing machine. For the buffers we consider two types of buffers that have been studied in the literature for flow shops. It is shown that all considered buffered flow shop pro作者: EXTOL 時間: 2025-3-23 06:37
Sara Musa,Wafaa Eyaid,Kimberli Kamer,Rehab Ali,Mariam Al-Mureikhi,Noora Shahbeck,Fatma Al Mesaifri,Nent, that is, optimizing the scheduling of a set of tasks so that the consumed volume of contaminated water is minimized. Each task consists of manually activating a given device, located on the hydraulic network of the water distribution system. In practice, once contamination has been detected, a 作者: padding 時間: 2025-3-23 12:15
Katsuyuki Yokoi,Yoko Nakajima,Tamae Ohye,Hidehito Inagaki,Yoshinao Wada,Tokiko Fukuda,Hideo Sugie,Ises they include in offspring, or naive, including edges without regard to their weights. Crossover operators that heuristically prefer shorter edges are strongly biased towards minimum spanning trees (MST); EAs that apply heuristic crossover generally perform poorly on spanning tree problems whose o作者: 譏諷 時間: 2025-3-23 17:37
Colleen M. Carlston,Sacha Ferdinandusse,Judith A. Hobert,Rong Mao,Nicola Longoe routing domain. This problem has been modelled with various extensions to address different real-world problems like tourist trip planning. The complexity of the problem motivated to devise new algorithms. However, none of the existing algorithms came with the best performance across all the widel作者: 法律的瑕疵 時間: 2025-3-23 20:05
D. Quelhas,J. Jaeken,A. Fortuna,L. Azevedo,A. Bandeira,G. Matthijs,E. Martinse routing domain. This problem has been modelled with various extensions to address different real-world problems like tourist trip planning. The complexity of the problem motivated to devise new algorithms. However, none of the existing algorithms came with the best performance across all the widel作者: 匍匐前進 時間: 2025-3-24 02:06 作者: 朝圣者 時間: 2025-3-24 05:55
Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study,low-protein diet on growth has raised concerns in families and caregivers. This paper aims to investigate the growth in PKU patients treated with a low-protein diet including supplementation of amino acids and other nutrients according to standard protocols..We performed a single-center, cross-secti作者: infatuation 時間: 2025-3-24 08:45 作者: chapel 時間: 2025-3-24 14:34 作者: 老人病學 時間: 2025-3-24 18:36
Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylautive function have been reported in individuals with OTC deficiency who are managed with medication. In some cases, children undergo liver transplantation (LTx) to correct the metabolic defect. The metabolic and medical outcomes of LTx are generally good. However, little is known about the impacts 作者: 揉雜 時間: 2025-3-24 22:47 作者: 傻瓜 時間: 2025-3-25 00:57 作者: Expertise 時間: 2025-3-25 05:35
Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the the alterations in the serum levels of several amino acids in the stages of newborn (NICCD) and adult (CTLN2). However, the clinical manifestations are resolved between the NICCD and CTLN2, but the reasons are still unclear. This study evaluated the serum amino acid profile in citrin-deficient chil作者: Congregate 時間: 2025-3-25 10:19
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive , Mutations,cal recovery. .: We performed trio whole genome sequencing (WGS) to determine the genetic basis of the disorder. Mitochondrial function analysis in cultured patient fibroblasts was undertaken to confirm the pathogenicity of candidate variants. .: The patient presented at 18?months with acute hemiple作者: MOAT 時間: 2025-3-25 13:52
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidion led to lung biopsy, pathology review, and identification of glycogen deposition. Pulmonary interstitial glycogenosis (PIG) was considered as a clinical diagnosis in case one; however, further review of electron microscopy (EM) was more consistent with MPS I rather than PIG. Both cases were confi作者: 易于出錯 時間: 2025-3-25 16:18 作者: 做作 時間: 2025-3-25 20:44 作者: LEVY 時間: 2025-3-26 01:30 作者: cathartic 時間: 2025-3-26 06:33
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency,tabolism. We report an 8-year-old boy with developmental delay, ataxia, hemiplegia, and hearing loss with abnormalities in the basal ganglia. Biochemical studies were essentially normal except for a persistent mildly elevated CSF alanine. This patient demonstrates an intermediate phenotype between a作者: Allowance 時間: 2025-3-26 12:28 作者: callous 時間: 2025-3-26 14:00 作者: grotto 時間: 2025-3-26 19:37
Book 2019JIMD 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: 策略 時間: 2025-3-26 22:00
https://doi.org/10.1007/978-3-662-58614-3inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic 作者: fastness 時間: 2025-3-27 04:27
978-3-662-58613-6Society for the Study of Inborn Errors of Metabolism (SSIEM) 2019作者: 衰弱的心 時間: 2025-3-27 08:56 作者: Diverticulitis 時間: 2025-3-27 10:48
Eva Morava,Matthias Baumgartner,Verena PetersUnique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed作者: 貧窮地活 時間: 2025-3-27 14:48
JIMD Reportshttp://image.papertrans.cn/j/image/500081.jpg作者: Emg827 時間: 2025-3-27 20:42 作者: 感激小女 時間: 2025-3-28 00:29
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants,h is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G?>?A (p.G276D), c.73C?>?T (p.R25W), and c.208T?>?C (p.C70R).作者: 懸掛 時間: 2025-3-28 04:55 作者: 信條 時間: 2025-3-28 09:53 作者: 生命 時間: 2025-3-28 11:53
Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study,), whereas postpubertal patients ≥12?years did not differ significantly in height .-scores compared to the target height (.?=?0.071). Healthy siblings’ height did not differ from target height in neither age group (.?=?0.100/.?=?0.301)..Our results suggest that PKU patients treated with low-protein 作者: allergen 時間: 2025-3-28 16:35
Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficof the condition. Magnetic resonance imaging demonstrated high signal intensity on diffusion-weighted images involving the internal and external capsules and cerebral white matter in infancy which disappeared gradually by the age of 3?years, and showed subsequently diffuse brain atrophy in childhood作者: 鋸齒狀 時間: 2025-3-28 22:50 作者: acquisition 時間: 2025-3-29 01:46
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessivebed ADP/ATP transport across the inner mitochondrial membrane may lead to an accumulation of different TCA-cycle intermediates such as 2-ketoglutarate (2-KG) in our patient. As L-2-HG is generated from 2-KG we hypothesize that the L-2-HG increase is a secondary effect of 2-KG accumulation. Hence, ou作者: Afflict 時間: 2025-3-29 04:56
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice,nd macrophage infiltration in systemic tissues. ICV administration did not elicit these systemic effects. SubQ PPS administration also significantly impacted brain neuropathology, inflammation, and behavior. The effect of early subQ treatment was more significant than dose. Surprisingly, ICV PPS tre作者: 疏遠天際 時間: 2025-3-29 09:28
Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During thee comparable in the citrin-deficient children to the respective control levels, but serum urea was twofold higher, suggestive of a functional urea cycle. The blood sugar level was normal, but glucogenic amino acids and glutamine were significantly decreased in the citrin-deficient children compared 作者: 肌肉 時間: 2025-3-29 12:12
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive , Mutations,lities improved. WGS identified compound heterozygous variants in .: one previously reported (c.136C>T, p.Arg46*) and one novel variant (c.176G>A, p.Cys59Tyr). Analysis of cultured patient fibroblasts demonstrated deficient pyruvate dehydrogenase (PDH) activity and reduced quantity of protein subuni作者: 寬大 時間: 2025-3-29 18:17
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidrove symptomatic outcomes. In addition to treatment, immediate precautionary recommendations were made to avoid potentially catastrophic outcomes associated with cervical instability. These cases add to the clinical spectrum of MPS I in the newborn period. They further illustrate the difficulties in作者: 中和 時間: 2025-3-29 20:35
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial , zygous for this mutation and an intragenic duplication of exons 9 and 10. The founder mutation occurs with a minor allele frequency of 1:60,000 in the ExAC database, but in ~1:500 individual in the Middle East. All 13 of these patients presented with developmental delay, learning disability, muscle 作者: 貧困 時間: 2025-3-30 03:32 作者: 背景 時間: 2025-3-30 06:56 作者: insidious 時間: 2025-3-30 08:30
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency,curred de novo on the maternal chromosome and that p.Phe27Val likely derived from the paternal chromosome. Nearby polymorphisms can help set phase of variants when only a single parent is available for testing or when an identified variant occurs de novo.作者: Ablation 時間: 2025-3-30 12:56 作者: 懶鬼才會衰弱 時間: 2025-3-30 20:04 作者: Airtight 時間: 2025-3-30 21:43
Leanne K. Winner,Neil R. Marshall,Robert D. Jolly,Paul J. Trim,Stephen K. Duplock,Marten F. Snel,Kim作者: Inelasticity 時間: 2025-3-31 04:29
rithm has been tested on several instances of the Max-Cut and TSP problems using three different migration strategies and without migration. The results obtained in the experiments confirm, that the performance of the algorithm is improved when information is transferred between subpopulations assig作者: 自愛 時間: 2025-3-31 08:38
Jana Matic,Nina A. Zeltner,Johannes H?berlethat constraints related to the electricity grid are satisfied. The objective is to minimize the number of employed vehicles and to minimize the total travel and charging costs. The developed multi-start algorithm is based on the Iterated Local Search metaheuristic which uses a Large Neighborhood Se作者: peptic-ulcer 時間: 2025-3-31 09:37 作者: CEDE 時間: 2025-3-31 16:17
Mary Kay Koenig,Penelope E. Bonnen proposed QCC-ACO algorithm has been tested on a set of quantum circuit benchmark instances of increasing sizes available from the recent literature. We demonstrate that the QCC-ACO obtains results that outperform the current best solutions in the literature against the same benchmark, succeeding in
