標(biāo)題: Titlebook: JIMD Reports, Volume 42; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI [打印本頁] 作者: 不同 時(shí)間: 2025-3-21 16:45
書目名稱JIMD Reports, Volume 42影響因子(影響力)
作者: decipher 時(shí)間: 2025-3-21 20:58
A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Associenesis of GCT formation. At age 19?years he required a repeat operation for local recurrence. He currently continues on G-CSF and was commenced on denosumab for control of the GCT with no recurrence to date. A cause and effect relationship between G-CSF therapy and the development of GCT in GSD type 1b remains to be established.作者: aspersion 時(shí)間: 2025-3-22 00:38
Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients,ase with age...: In our patients, a progressive coagulopathy was the most sensitive parameter of liver dysfunction. Nodular fibrosis of the liver developed over the natural course of TALDO. This is the first report of long-term systematic clinical and biochemical monitoring of the disease progress in patients with TALDO.作者: 假設(shè) 時(shí)間: 2025-3-22 08:12 作者: 替代品 時(shí)間: 2025-3-22 10:52 作者: 注視 時(shí)間: 2025-3-22 15:24
2192-8304 tabolic disorders.All contributions rigorously peer-reviewedJIMD 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 clinica作者: 淘氣 時(shí)間: 2025-3-22 17:04
978-3-662-58364-7Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018作者: Moderate 時(shí)間: 2025-3-22 22:21
JIMD Reports, Volume 42978-3-662-58365-4Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: FLUSH 時(shí)間: 2025-3-23 03:12
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: 前兆 時(shí)間: 2025-3-23 06:05
JIMD Reportshttp://image.papertrans.cn/j/image/500080.jpg作者: Exposition 時(shí)間: 2025-3-23 12:56 作者: Implicit 時(shí)間: 2025-3-23 14:17
https://doi.org/10.1007/978-3-662-58365-4inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic 作者: Extricate 時(shí)間: 2025-3-23 21:09
Paula Pérez-Albert,Carmen de Lucas Collantes,Miguel ángel Fernández-García,Teresa de Rojas,Cristina 作者: GREEN 時(shí)間: 2025-3-24 01:17
Monique G. M. de Sain-van der Velden,Willemijn F. E. Kuper,Marie-Anne Kuijper,Lenneke A. T. van Kats作者: STING 時(shí)間: 2025-3-24 06:02 作者: 成份 時(shí)間: 2025-3-24 07:34
E. Rivers,B. C. Reynolds,S. Bunn,N. J. Leech,J. Straker,H. J. Lambertat can be used in biological modeling, including evolutionary game theory. Advanced techniques such as cellular encoding, grammar based encoding, and graph based evolutionary algorithms are also covered. ..This book?presents a large number of homework problems, projects, and experiments, with a goal作者: 背心 時(shí)間: 2025-3-24 13:37
Raajiv Prasad,Jane Estrella,John Christodoulou,Geoffrey McKellar,Michel C. Tchanhan using all features. Meanwhile, it achieves better performance than the two traditional feature selection algorithms. It maintains the classification performance achieved by the standard PSO for feature selection algorithm, but significantly reduces the number of features and the computational co作者: Cervical-Spine 時(shí)間: 2025-3-24 15:55 作者: 松果 時(shí)間: 2025-3-24 23:03 作者: Impugn 時(shí)間: 2025-3-25 00:51 作者: CHAFE 時(shí)間: 2025-3-25 06:32 作者: 平靜生活 時(shí)間: 2025-3-25 08:59
Ahmed Reda,Ann Van Schepdael,Erwin Adams,Prasanta Paul,David Devolder,Mohamed A. Elmonem,Koenraad Ven of the fitness distance correlation (FDC) and the neutrality ratio for a given AutoML search space. Results of FDC are counter-intuitive and require a more in-depth analysis of a range of search spaces. Results of neutrality, in turn, show a strong positive correlation between the mean neutrality 作者: 多山 時(shí)間: 2025-3-25 12:13 作者: PLAYS 時(shí)間: 2025-3-25 17:24
V. Hamilton,L. Santa María,K. Fuenzalida,P. Morales,L. R. Desviat,M. Ugarte,B. Pérez,J. F. Cabello,Ver presents results obtained using two versions of the Mallows model, which is a probabilistic model often used for permutation-based problems. For comparison, results obtained on the same test instances using an Ant Colony Optimization (ACO) algorithm, an Evolutionary Algorithm (EA) and a Variable 作者: Asperity 時(shí)間: 2025-3-25 21:47
Nouf Althonaian,Abdulrahman Alsultan,Eva Morava,Majid Alfadhelpproaches know nothing of the weights. The result is highly significant for complex real-world problems where objective weights are seldom known in advance since it suggests that a multi-objective approach can generate a solution close to the user preferred one without having knowledge of user prefe作者: Exhilarate 時(shí)間: 2025-3-26 01:28
Sandra Pereira,Mariana Adri?o,Mafalda Sampaio,Margarida Ayres Basto,Esmeralda Rodrigues,Laura Vilariecoded into a composition solution by using a planning algorithm. This approach is compared to a previously proposed graph-based direct representation method, and experiment results show that the indirect representation can lead to a greater (or equivalent) quality while requiring a lower execution 作者: 性學(xué)院 時(shí)間: 2025-3-26 05:49 作者: 嫻熟 時(shí)間: 2025-3-26 10:45 作者: occult 時(shí)間: 2025-3-26 14:29 作者: 織布機(jī) 時(shí)間: 2025-3-26 17:54 作者: mosque 時(shí)間: 2025-3-26 21:11
The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria,ting TBW (.?=??0.056, adjusted ..?=?0.069, .?=?0.169) or FFM (.?=??0.089, adjusted ..?=?0.142, .?=?0.083)...: Our results suggest that when compared with the criterion method, the QuadScan 4000, Bodystat. can reliably be used to predict TBW and FFM in patients with PKU. We suggest that due to the po作者: 統(tǒng)治人類 時(shí)間: 2025-3-27 03:17
Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops,e ophthalmic compounded solution. Cysteamine ophthalmic solution was prepared in the hospital pharmacy and sterilized using a candle filter. The preparations are then stored either in the freezer at ?20°C or in the refrigerator at +4°C for up to 52 weeks. The amount of cysteamine hydrochloride in th作者: 赤字 時(shí)間: 2025-3-27 06:47 作者: 名次后綴 時(shí)間: 2025-3-27 12:05 作者: 埋伏 時(shí)間: 2025-3-27 16:00 作者: 多骨 時(shí)間: 2025-3-27 19:03
Beneficial Effect of BH, Treatment in a 15-Year-Old Boy with Biallelic Mutations in ,oted. Additionally, gait analysis before and after treatment initiation revealed a partial normalization of his movement disorder...: Patients with hyperphenylalaninemia due to . deficiency may benefit from treatment with a BH. analog – even when introduced at a later age.作者: 和音 時(shí)間: 2025-3-27 22:13
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review,hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. For the first time in the literature, we report on a 5-year-old girl diagnosed with a . (.) gene defect complicated by HLH. Finally, we review the literature on inborn errors of metabolism associated with HLH and compare the previously reported patie作者: N防腐劑 時(shí)間: 2025-3-28 02:51
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant,olic and genetic causes failed to disclose a diagnosis. Post-mortem exome sequencing allowed the identification of a pathogenic variant in . gene in the homozygous state (c.1100C?>?T, p.Thr367Ile) in the patient, inherited from her heterozygous parents, leading to the diagnosis of COXPD2... To the b作者: 誘拐 時(shí)間: 2025-3-28 08:22 作者: 護(hù)身符 時(shí)間: 2025-3-28 13:40
A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Associ Stimulating Factor (G-CSF) use. G-CSF in GSD 1b is indicated for persistent neutropaenia, sepsis, inflammatory bowel disease and severe diarrhoea. Our patient was 12?years old at GCT diagnosis and had been treated with G-CSF from 5?years of age. He underwent therapy with interferon followed by loca作者: 黃瓜 時(shí)間: 2025-3-28 17:55 作者: placebo 時(shí)間: 2025-3-28 22:41
-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlaal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition 作者: creatine-kinase 時(shí)間: 2025-3-29 01:21 作者: 培養(yǎng) 時(shí)間: 2025-3-29 03:13 作者: 樂章 時(shí)間: 2025-3-29 11:09 作者: 防止 時(shí)間: 2025-3-29 12:30 作者: 裁決 時(shí)間: 2025-3-29 17:31 作者: 駕駛 時(shí)間: 2025-3-29 20:30 作者: GOAT 時(shí)間: 2025-3-30 00:55
Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients,iagnosed in 33 patients. T?here are few reports regarding the long-term follow-up of these patients..The . of our study is to present the disease progression in the form of a systematic long-term follow-up of four Polish patients with TALDO...: We report four patients who manifested early onset TALD作者: anniversary 時(shí)間: 2025-3-30 05:06 作者: 獨(dú)白 時(shí)間: 2025-3-30 09:57
Beneficial Effect of BH, Treatment in a 15-Year-Old Boy with Biallelic Mutations in ,nt was initiated early in life. We report on a 15-year-old boy with HPA due to a homozygous deletion in . in whom – despite his advanced age – treatment was initiated...: A boy with developmental delay, an extrapyramidal movement disorder, and persistently elevated plasma phenylalanine levels was di作者: DEMN 時(shí)間: 2025-3-30 16:22
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review,ated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or se作者: 親愛 時(shí)間: 2025-3-30 19:55 作者: 名次后綴 時(shí)間: 2025-3-31 00:08
lutionary programming, evolution strategies, and genetic programming. The text is a survey of?some?application of evolutionary algorithms.?It introduces mutation, crossover, design issues of selection and replacement methods, the issue of populations size, and the question of design of the fitness f作者: Mumble 時(shí)間: 2025-3-31 02:51
E. Rivers,B. C. Reynolds,S. Bunn,N. J. Leech,J. Straker,H. J. Lambertlutionary programming, evolution strategies, and genetic programming. The text is a survey of?some?application of evolutionary algorithms.?It introduces mutation, crossover, design issues of selection and replacement methods, the issue of populations size, and the question of design of the fitness f作者: Accrue 時(shí)間: 2025-3-31 05:30 作者: Addictive 時(shí)間: 2025-3-31 12:42
Kenneth I. Berger,Barbara K. Burton,Gregory D. Lewis,Mark Tarnopolsky,Paul R. Harmatz,John J. Mitcheh problem (SPP) with a delay constraint on the total “cost” of the optimal path. The proposed algorithm uses the principle of Lagrange relaxation based aggregated cost, where PSO and noising metaheuristic are used for minimizing the modified cost function. It essentially consists of two PSOs. The ma作者: Obligatory 時(shí)間: 2025-3-31 14:09 作者: Pantry 時(shí)間: 2025-3-31 18:53 作者: FIG 時(shí)間: 2025-3-31 22:58
Maureen Evans,Kay Nguo,Avihu Boneh,Helen Trubyinventory levels at the same time. The IRP is notable for its difficulty - even finding feasible initial solutions poses a?significant problem..In this paper an evolutionary algorithm is proposed that uses approaches to solution construction and modification utilized by practitioners in the field. T
