標題: Titlebook: JIMD Reports Volume 16; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag Berlin Heidelberg 2014 Mende [打印本頁] 作者: 分類 時間: 2025-3-21 17:35
書目名稱JIMD Reports Volume 16影響因子(影響力)
書目名稱JIMD Reports Volume 16影響因子(影響力)學科排名
書目名稱JIMD Reports Volume 16網(wǎng)絡(luò)公開度
書目名稱JIMD Reports Volume 16網(wǎng)絡(luò)公開度學科排名
書目名稱JIMD Reports Volume 16被引頻次
書目名稱JIMD Reports Volume 16被引頻次學科排名
書目名稱JIMD Reports Volume 16年度引用
書目名稱JIMD Reports Volume 16年度引用學科排名
書目名稱JIMD Reports Volume 16讀者反饋
書目名稱JIMD Reports Volume 16讀者反饋學科排名
作者: 易改變 時間: 2025-3-21 20:14
Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta, was approved by EMA in 2001 and FDA in 2003...: Six patients were enrolled. Baseline data was measured for renal, cardiac, and cerebrovascular functioning. We compared baseline quality of life scales with the current results. These parameters were assessed during the 10?years of follow-up period...作者: 不安 時間: 2025-3-22 01:44 作者: 有其法作用 時間: 2025-3-22 07:58
Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosifunction called renal Fanconi syndrome. Urinary carnitine loss results in plasma and muscle carnitine deficiency, but no clinical signs of carnitine deficiency have been described. Also, the optimal dose of carnitine supplementation is undefined. This study aimed to determine whether currently recom作者: Clinch 時間: 2025-3-22 12:43 作者: 聾子 時間: 2025-3-22 12:55 作者: 共同確定為確 時間: 2025-3-22 18:51
Fibrolamellar Hepatocellular Carcinoma Mimicking Ornithine Transcarbamylase Deficiency,llar hepatocellular carcinoma (FLC). This posed a diagnostic challenge, as she had normal liver function tests and normal looking liver on imaging but with extra hepatic metastases. This case highlights the importance of measuring plasma ammonia levels in all patients presenting with unexplained acu作者: 移動 時間: 2025-3-23 00:36
Reversal of Respiratory Failure in Both Neonatal and Late Onset Isolated Remethylation Disorders,f both central and peripheral neuropathy and has previously often been considered to herald an irreversible neurological decline. We present three patients, one with methionine synthase (cblG) and two with methyltetrahydrofolate reductase deficiency (MTHFR). One patient with MTHFR presented in infan作者: 反省 時間: 2025-3-23 01:44
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP),ynthase (HMBS), protoporphyrinogen oxidase (PPOX), and coproporphyrinogen oxidase (CPOX) genes, respectively. This study aimed to identify mutations in seven Bulgarian families with AIP, six with VP, and one with HCP. A total of 33 subjects, both symptomatic (.?=?21) and asymptomatic (.?=?12), were 作者: Immobilize 時間: 2025-3-23 08:52 作者: monochromatic 時間: 2025-3-23 12:46
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Chillglutaconic and 3-methylglutaric acids in the urine. Mutations in several genes have been identified in association with 3-methylglutaconic aciduria. We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on作者: Thrombolysis 時間: 2025-3-23 15:35 作者: 不安 時間: 2025-3-23 19:49
,Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia,rate estimations of disease birth prevalence. Epidemiological data is of key importance for the understanding of the natural history of the disorders as well as to define more effective public health strategies. In order to estimate FAOD birth prevalence in Iberia, the authors collected data from si作者: 嚴重傷害 時間: 2025-3-23 22:15 作者: MAPLE 時間: 2025-3-24 03:34 作者: 釘牢 時間: 2025-3-24 06:32
vy historic anthropogenic pressures and the emergence of new human activities: fishing, harbour extension, aggregate extraction, deposition of dredged sediment, and offshore wind farms. By contrast, this area shows a high level of protection of its natural heritage, mainly owing to the Natural Reser作者: 紀念 時間: 2025-3-24 11:50
Saskia B. Wortmann,Leo A. J. Kluijtmans,Silvia Sequeira,Ron A. Wevers,Eva Moravation whereas due to their intrinsic brightness, they offer the (only until now) possibility to study the stellar content and stellar behaviour in distant galaxies. The last, say, 25 years, massive stars have been the subject of numerous meetings discussing the influence of massive stars on populatio作者: 休戰(zhàn) 時間: 2025-3-24 16:10
Politei Juan,Amartino Hernan,Schenone Andrea Beatriz,Cabrera Gustavo,Michref Antonio,Tanus Eduardo,Drtant developments of science dealing with matter and energy on cosmic and global scales. In the conventional literature all of these findings are distributed among books and journals on physics, astronomy, chemistry, geology, biology, energy, engineering, and the environmental sciences. The main pu作者: Phagocytes 時間: 2025-3-24 22:57
Tsutomu Shimada,Shunji Tomatsu,Eriko Yasuda,Robert W. Mason,William G. Mackenzie,Yuniko Shibata,Franlopments of science dealing with matter and energy on cosmic and global scales. In the conventional literature all of these findings are distributed among books and journals on physics, astronomy, chemistry, geology, biology, energy, engineering, and the environmental sciences. The main purpose here作者: 變形詞 時間: 2025-3-25 02:03 作者: 擔心 時間: 2025-3-25 05:12 作者: Binge-Drinking 時間: 2025-3-25 07:40 作者: impaction 時間: 2025-3-25 15:29
A. Broomfield,L. Abulhoul,W. Pitt,E. Jameson,M. Cleary the pandemic, regional migration flows affected the local demand for flexible working spaces in non-urban regions and attracted the interest of the local stakeholders. As a result, a growing number of coworking spaces (CSs) were established in non-urban areas. Yet the scientific discussion on what 作者: 難管 時間: 2025-3-25 19:50 作者: 鑲嵌細工 時間: 2025-3-25 22:24 作者: concert 時間: 2025-3-26 02:43
Heidi S. Lumish,Yaping Yang,Fan Xia,Ashley Wilson,Wendy K. Chungon of that total may not be codonic, nevertheless, the complexity of RNA transcript sequences now detectable in the nuclei of higher plant and animal cells is on the order of 20,000 to 100,000 distinct sequences. A central dogma of developmental biology is that, with unusual exceptions, the genetic 作者: Palpable 時間: 2025-3-26 05:26
Maria G. Alessandrì,Manuela Casarano,Ilaria Pezzini,Stefano Doccini,Claudia Nesti,Giovanni Cioni,Robginal thermo- hydrodynamic equations [8]. For the case of stress-free, heat conducting and permeable boundaries the truncation leads to a set of five nonlinearly coupled ordinary differential equations for the amplitudes of the flow fields. We have . where A. refers to the velocity, A. and A. to the作者: 語源學 時間: 2025-3-26 12:02
Hugo Rocha,Daisy Casti?eiras,Carmen Delgado,José Egea,Raquel Yahyaoui,Yolanda González,Manuel Conde,eurons in one area and target cells in another area of the nervous system. Various mechanisms, including pre-existing order of fibers in the nerve, order in time of arrival of fibers in the target area, and fiber-fiber interactions may contribute to the spatial order of connections. This does not su作者: 高貴領(lǐng)導 時間: 2025-3-26 14:06 作者: DIS 時間: 2025-3-26 20:37
Sitke Aygen,Ulrich Dürr,Peter Hegele,Johannes Kunig,Manfred Spraul,Hartmut Sch?fer,David Krings,Claiginal thermo- hydrodynamic equations [8]. For the case of stress-free, heat conducting and permeable boundaries the truncation leads to a set of five nonlinearly coupled ordinary differential equations for the amplitudes of the flow fields. We have . where A. refers to the velocity, A. and A. to the作者: 衰老 時間: 2025-3-26 21:49 作者: 使混合 時間: 2025-3-27 01:41 作者: minimal 時間: 2025-3-27 08:30 作者: progestin 時間: 2025-3-27 09:53
JIMD Reports Volume 16978-3-662-44587-7Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: armistice 時間: 2025-3-27 16:57 作者: 不要不誠實 時間: 2025-3-27 18:18 作者: 鳴叫 時間: 2025-3-28 01:22 作者: Palate 時間: 2025-3-28 05:19 作者: Fluctuate 時間: 2025-3-28 09:36
Fibrolamellar Hepatocellular Carcinoma Mimicking Ornithine Transcarbamylase Deficiency,treatment. Delay in treatment results in irreversible brain damage, deep coma and death. Treatment of hyperammonaemia must begin prior to confirmation of aetiology, for a favourable outcome. This case also highlights the need for further research to understand the exact mechanism of hyperammonaemia in hepatocellular carcinoma.作者: Enteropathic 時間: 2025-3-28 12:43 作者: 土坯 時間: 2025-3-28 15:23 作者: 芳香一點 時間: 2025-3-28 20:58
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Chilled two loss-of-function mutations in . in trans: c.438delC (p.T147Rfs*22) and c.442C>T (p.R148X), confirmed by Sanger sequencing. One of these mutations is novel (c.438delC). This case contributes to refining the MEGDEL phenotype.作者: 繁榮地區(qū) 時間: 2025-3-28 23:01
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect, defect. This strongly supports the hypothesis that 3-methylglutaconic aciduria is independent from leucine breakdown in other inborn errors of metabolism with 3-methylglutaconic aciduria and also provides a simple test to discriminate between primary and secondary 3-methylglutaconic aciduria in reg作者: 噱頭 時間: 2025-3-29 03:39
Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta,diographic values did not present progression to LVH and one female showed regression to normal values of LV posterior wall and interventricular septum. Brain MRI showed ischemic lesions in one female and vertebrobasilar dolichoectasia in one male. From baseline and during the follow-up period MRI d作者: Hemodialysis 時間: 2025-3-29 07:59
Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII,e measured in the blood from control subjects and patients with MPS IVA and VII aged from 0 to 58?years of age. We also assayed KS levels in the same samples for comparison with C6S..Levels of C6S in the blood decreased with age and were significantly elevated in patients with MPS IVA and VII, compa作者: 不適 時間: 2025-3-29 15:25 作者: licence 時間: 2025-3-29 17:21 作者: 碳水化合物 時間: 2025-3-29 20:41
Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I,ony assessed by 2D speckle tracking imaging, the maximum time delay of contraction decreased from 148 to 14?ms. In addition, the LV weight significantly correlated with the E/A ratio (.?
作者: 自作多情 時間: 2025-3-30 02:50 作者: Colonoscopy 時間: 2025-3-30 05:25 作者: 祖?zhèn)髫敭a(chǎn) 時間: 2025-3-30 08:15
Analysis of Methylcitrate in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry,thylamino)-2,1,3-benzoxadiazole (DAABD-AE). No separate extraction step was required and derivatization was performed directly using a 3.2-mm disc of DBS as a sample (65°C for 45?min). The reaction mixture was analyzed by liquid chromatography tandem mass spectrometry. MCA was well separated and elu作者: 兇兆 時間: 2025-3-30 16:24
,Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia,ed so far (1:6,351), strongly influenced by the high prevalence of medium-chain acyl-CoA dehydrogenase deficiency (MCADD; 1:8,380), one of the highest ever reported. This is justified by the fact that more than 90% of Portuguese MCADD patients are of Gypsy origin, a community characterized by a high作者: 善辯 時間: 2025-3-30 20:35 作者: jealousy 時間: 2025-3-31 00:20
hese integrative approaches allow us to assess the ecological quality status of the Bay of Seine and the Seine estuary. Trophic models based on the quantification of energy and matter fluxes in ecosystems, as well as indices derived from ecological network analysis, are used to describe the interact作者: 我悲傷 時間: 2025-3-31 00:59 作者: Ischemia 時間: 2025-3-31 07:40
Politei Juan,Amartino Hernan,Schenone Andrea Beatriz,Cabrera Gustavo,Michref Antonio,Tanus Eduardo,Df human development on this planet should not be possible. The book has been prepared based on my lectures at the Warsaw University from 1959 to 1968 and during the 15 years 1969-1983 at the Swiss Federal Institute of Technology (Eidgenossische Technische Hochschule) in Zurich and at the University of Zurich.978-3-540-13399-5978-3-642-95453-5作者: 退潮 時間: 2025-3-31 09:59 作者: novelty 時間: 2025-3-31 13:59
