標題: Titlebook: JIMD Reports, Volume 44; Eva Morava,Matthias Baumgartner,Verena Peters Book 2019 Society for the Study of Inborn Errors of Metabolism (SSI [打印本頁] 作者: ACE313 時間: 2025-3-21 19:55
書目名稱JIMD Reports, Volume 44影響因子(影響力)
書目名稱JIMD Reports, Volume 44影響因子(影響力)學科排名
書目名稱JIMD Reports, Volume 44網絡公開度
書目名稱JIMD Reports, Volume 44網絡公開度學科排名
書目名稱JIMD Reports, Volume 44被引頻次
書目名稱JIMD Reports, Volume 44被引頻次學科排名
書目名稱JIMD Reports, Volume 44年度引用
書目名稱JIMD Reports, Volume 44年度引用學科排名
書目名稱JIMD Reports, Volume 44讀者反饋
書目名稱JIMD Reports, Volume 44讀者反饋學科排名
作者: languor 時間: 2025-3-21 21:21
Arcangela Iuso,Bader Alhaddad,Corina Weigel,Urania Kotzaeridou,Elisa Mastantuono,Thomas Schwarzmayr, global optimum of an artificially generated helper problem via the Pareto local optimal solutions. Experimental results showed that the proposed MOLS achieved a higher success rate of the target single-objective optimization than iterative local search algorithms on target .-landscape problems with作者: fringe 時間: 2025-3-22 03:06 作者: Intercept 時間: 2025-3-22 04:36 作者: meditation 時間: 2025-3-22 11:51
Masashi Morita,Shun Matsumoto,Airi Sato,Kengo Inoue,Dzmitry G. Kostsin,Kozue Yamazaki,Kosuke Kawagucctice. 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: Bumble 時間: 2025-3-22 16:44 作者: 不出名 時間: 2025-3-22 18:42 作者: 迎合 時間: 2025-3-23 00:18 作者: 厚臉皮 時間: 2025-3-23 02:11
Melis Kose,Secil Akyildiz Demir,Gulcin Akinci,Cenk Eraslan,Unsal Yilmaz,Serdar Ceylaner,Eser Sozmen r 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: ANTE 時間: 2025-3-23 09:19
D. Marques-da-Silva,R. Francisco,V. dos Reis Ferreira,L. Forbat,R. Lagoa,P. A. Videira,P. Witters,J.r 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: resuscitation 時間: 2025-3-23 12:46 作者: 圣歌 時間: 2025-3-23 14:57 作者: 劇毒 時間: 2025-3-23 18:59 作者: 燕麥 時間: 2025-3-24 00:16
Bobby G. Ng,Hunter R. Underhill,Lars Palm,Per Bengtson,Jean-Michel Rozet,Sylvie Gerber,Arnold Munnicr 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: myelography 時間: 2025-3-24 05:02 作者: chisel 時間: 2025-3-24 10:27 作者: Paraplegia 時間: 2025-3-24 13:05 作者: 母豬 時間: 2025-3-24 18:04 作者: 持久 時間: 2025-3-24 21:43 作者: Arctic 時間: 2025-3-25 03:04
Psychosocial Functioning in Parents of MPS III Patients,d depression (34.6%) more frequently compared to reference mothers (.?=?0.001). Fathers more often met the criteria for clinically relevant depression (36.8%) compared to reference fathers (.?=?0.022). Clinically relevant distress was highly prevalent in mothers (84.6%) and fathers (68.4%) of MPS II作者: NEEDY 時間: 2025-3-25 05:04 作者: 軍火 時間: 2025-3-25 08:57 作者: nitroglycerin 時間: 2025-3-25 12:46 作者: vertebrate 時間: 2025-3-25 17:39
Cobalamin D Deficiency Identified Through Newborn Screening,evelopmental delay. We provide detailed description of her presentation, her treatment, and her complications to aid in the understanding of this rare disorder, which is very similar to the more common cobalamin C disorder (cblC).作者: 治愈 時間: 2025-3-25 22:29
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties,firming the diagnosis. The c.630C>A p.(Asp210Glu) mutation has been reported in one previous patient, who also had a relatively mild phenotype (Ho et al., JIMD Rep 12:129–134, 2014). The mutation leads to a relatively conservative amino acid substitution, consistent with some residual enzyme activit作者: monopoly 時間: 2025-3-26 02:59 作者: 抵押貸款 時間: 2025-3-26 06:56 作者: Ingest 時間: 2025-3-26 09:17 作者: sigmoid-colon 時間: 2025-3-26 13:59 作者: Haphazard 時間: 2025-3-26 19:23 作者: 線 時間: 2025-3-26 21:23 作者: 送秋波 時間: 2025-3-27 03:02
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: 受辱 時間: 2025-3-27 06:42
https://doi.org/10.1007/978-3-662-58617-4inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic 作者: Blazon 時間: 2025-3-27 12:27 作者: Libido 時間: 2025-3-27 16:34
JIMD Reports, Volume 44978-3-662-58617-4Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: GLOOM 時間: 2025-3-27 20:22 作者: 微枝末節(jié) 時間: 2025-3-28 01:36 作者: FILTH 時間: 2025-3-28 05:44 作者: Sad570 時間: 2025-3-28 09:53 作者: convert 時間: 2025-3-28 12:08
Psychosocial Functioning in Parents of MPS III Patients,ng childhood and early demise. Its diagnosis may have a great impact on parents, potentially leading to psychosocial problems such as anxiety, depression, parental distress, and posttraumatic stress...: Twenty-six mothers and 19 fathers of 34 Dutch MPS III patients completed the “Hospital Anxiety an作者: ALLAY 時間: 2025-3-28 14:37
The Second Case of Saposin A Deficiency and Altered Autophagy, course within the first months of life in the classic infantile form. This process may be triggered by the accumulation of galactosylceramide (GalCer) in nervous tissues. Both the enzyme galactosylceramidase and its in vivo activator molecule, saposin A, are essential during GalCer degradation. A c作者: Externalize 時間: 2025-3-28 19:09 作者: 藥物 時間: 2025-3-29 01:45 作者: BROOK 時間: 2025-3-29 03:42
Cobalamin D Deficiency Identified Through Newborn Screening,nic aciduria, or combined methylmalonic aciduria and homocystinuria (cblD-combined). Only seven cases of the combined cblD form have been reported to date. Due to the rarity of this disorder, the presentation and symptoms are not well described. We present an eighth case of the cblD-combined subtype作者: amplitude 時間: 2025-3-29 10:48
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties,atient, with a relatively mild phenotype. He presented at 5?years of age with bilateral posterior cataracts, which were managed with lensectomies and intraocular lens implants. He also had learning difficulties, with a full-scale IQ of 64 at 11?years of age. His head circumference is between the 0.4作者: HACK 時間: 2025-3-29 12:09
, Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients,myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, wh作者: 保存 時間: 2025-3-29 19:12
Enzyme Replacement Therapy During Pregnancy in Fabry Patients,-3) accumulation in lysosomes and in placenta and umbilical cord. Impact of FD and treatment with enzyme replacement (ERT) on foetal development is undisclosed..A 38-year-old primigravida with FD (G85N) is reported. She has 50% reduced alpha-galactosidase A activity and elevated plasma and urine-Gb-作者: ALIEN 時間: 2025-3-29 21:44 作者: Iniquitous 時間: 2025-3-30 02:43 作者: 先行 時間: 2025-3-30 07:07
Reversible Cerebral White Matter Abnormalities in Homocystinuria,changes (WMC) are linked to elevated plasma methionine levels arising during treatment..A 6-year-old boy with learning difficulties and a normal MRI brain scan was diagnosed with homocystinuria (initial total homocysteine 344?μmol/L and methionine 64?μmol/L). At the age of 6.5?years, he developed su作者: 手術刀 時間: 2025-3-30 08:36 作者: Charitable 時間: 2025-3-30 15:32
Arcangela Iuso,Bader Alhaddad,Corina Weigel,Urania Kotzaeridou,Elisa Mastantuono,Thomas Schwarzmayr,tures. Multi-objectivization re-formulates a single-objective target problem into a multi-objective problem with a helper problem to suppress the difficulty of the target problem. This paper analyzed the connectivity of two funnels involving global optima in the target and the helper .-landscape pro作者: nonradioactive 時間: 2025-3-30 19:57
Jasmine Lee-Barber,Taylor E. English,Jacquelyn F. Britton,Nara Sobreira,Jason Goldstein,David Valle,ionary techniques have been used with success as global searchers in difficult problems, particularly in the optimization of non-differentiable functions. Hence, they can improve clustering. However, existing . clustering techniques suffer from one or more of the following shortcomings: (i) they are
