標(biāo)題: Titlebook: JIMD Reports, Volume 39; Eva Morava (Editor-in-Chief),Matthias Baumgartner, Book 2018 Society for the Study of Inborn Errors of Metabolism [打印本頁] 作者: 變更 時間: 2025-3-21 18:12
書目名稱JIMD Reports, Volume 39影響因子(影響力)
作者: cutlery 時間: 2025-3-21 23:27
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency,acid profile was in the normal range indicating an adequate nutritional support. Pregnancy progressed uneventful and the patient gave birth to a healthy boy without any complication..A careful clinical monitoring associated with an adequate medical/nutritional management may improve pregnancy outcome in women with MADD.作者: coddle 時間: 2025-3-22 00:39
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficieccessfully treated by triheptanoin. The child was managed, thereafter, on triheptanoin until her death at 3 years of age from a cardiopulmonary arrest in the setting of acute respiratory illness superimposed on chronic hypercarbic respiratory failure.作者: Estrogen 時間: 2025-3-22 06:10
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Teoyl-CoA hydratase, a mitochondrial enzyme encoded by the . gene, was markedly decreased in lymphocytes. Retrospective urine analysis confirms that elevated levels of .-(2-carboxypropyl)cysteamine, .-(2-carboxypropyl)cysteine, and .-acetyl-.-(2-carboxypropyl)cysteine can be a diagnostic clue in the disease spectrum of . mutations.作者: 祖先 時間: 2025-3-22 10:25 作者: 關(guān)心 時間: 2025-3-22 14:59 作者: atopic 時間: 2025-3-22 18:49
978-3-662-57576-5Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018作者: 殺人 時間: 2025-3-23 00:51 作者: 推遲 時間: 2025-3-23 03:01 作者: 干旱 時間: 2025-3-23 09:21 作者: 漂浮 時間: 2025-3-23 09:54
Book 2018JIMD 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: 消音器 時間: 2025-3-23 15:12
https://doi.org/10.1007/978-3-662-57577-2inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic 作者: Inordinate 時間: 2025-3-23 18:43
Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorptistration. We report our experience in achieving normal (age dependent) CSF 5-Methyltetrahydrofolate (5-MTHF) levels following daily intramuscular administration of levofolinic acid in three patients with HFM. Follow-up assessment with repeated lumbar punctures has shown a stabilization of 5-MTHF lev作者: conspicuous 時間: 2025-3-24 00:26
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patientof the disease in Estonian population is 1/77,000. It is comparable to the current prevalence of PMM2-CDG for the less than 18?years age group, which is 1/79,000. In conclusion, the frequency of PMM2-CDG in Estonia is lower than in other European populations reported thus far. We demonstrate that bi作者: Crohns-disease 時間: 2025-3-24 02:24
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms,nt of acute renal failure most likely due to haemolytic uraemic syndrome associated with a pneumococcal infection. We hypothesise that known GA1 pathomechanisms, namely the endothelial dysfunction mediated by 3OHGA, as well as the transporter mechanisms for the urinary excretion of GA and 3OHGA, are作者: PIZZA 時間: 2025-3-24 09:31 作者: BUST 時間: 2025-3-24 11:02
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two vealed compound heterozygous variants in .. Fibroblast studies for beta-ketothiolase enzyme activity were confirmatory. The second patient presented at 6 months of age with ketoacidosis, and was found to have elevations of urinary 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, and tiglylg作者: Benign 時間: 2025-3-24 17:27
Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantie symptoms and consanguineous familial pedigree, extensive biochemical and genetic investigation was undertaken to ensure no alternative pathology was elucidated. In light of these findings, we review the radiology and post-mortems of previous cases and discuss the potential mechanisms that may unde作者: organic-matrix 時間: 2025-3-24 20:35 作者: parallelism 時間: 2025-3-25 01:32
Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome],ildren. Thirty-six per cent scored in the mild-to-moderate range, suggesting milder, but marked, difficulties in social interaction. Although children with MPS-IH did not show significantly higher rates of internalising, externalising or total behaviour problems than the normative sample, they recei作者: 角斗士 時間: 2025-3-25 06:42 作者: 宇宙你 時間: 2025-3-25 11:04
High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant sts of healthy controls, an SP MPSIIIB patient (homozygous for the temperature sensitive mutation p.S612G) and an RP MPSIIIB patient (homozygous for the p.R297* mutation and non-temperature sensitive), were used. A high-throughput assay for measurement of NAGLU activity was developed and validated, 作者: 斷斷續(xù)續(xù) 時間: 2025-3-25 11:45 作者: 戲法 時間: 2025-3-25 17:48 作者: 個阿姨勾引你 時間: 2025-3-25 20:35 作者: Neonatal 時間: 2025-3-26 01:10 作者: 小母馬 時間: 2025-3-26 07:58 作者: aggressor 時間: 2025-3-26 09:21
Sidharth Mahapatra,Amitha Ananth,Nancy Baugh,Mihaela Damian,Gregory M. Ennssystem—on the other hand, we can be totally sure that we will never be able to forecast exactly whatever that “something” will be. At lower levels of biological hierarchy, e.g., the molecular level represented by molecules like DNA, RNA, and proteins, ontic openness seems pretty easy to comprehend. 作者: pester 時間: 2025-3-26 13:20 作者: THROB 時間: 2025-3-26 19:38 作者: 任命 時間: 2025-3-26 22:28 作者: 全能 時間: 2025-3-27 04:33 作者: 墻壁 時間: 2025-3-27 05:58 作者: 駭人 時間: 2025-3-27 12:46 作者: 搜尋 時間: 2025-3-27 14:14 作者: Trigger-Point 時間: 2025-3-27 19:02
Irene C. Huffnagel,Egbert J. W. Redeker,Liesbeth Reneman,Frédéric M. Vaz,Sacha Ferdinandusse,Bwee Tiarable to taxonomic hierarchy. Nevertheless, the problem remains as trees using rRNA sequences do not offer a satisfactory benchmark to taxonomic hierarchy. We have developed an algorithm that compares the topology of a given phylogenetic tree to the taxonomic tree for the same set of species and es作者: 上腭 時間: 2025-3-27 22:45 作者: Limerick 時間: 2025-3-28 04:00
O. L. M. Meijer,P. van den Biggelaar,R. Ofman,F. A. Wijburg,N. van Vlies temporarily by mass extinction and showed little enduring change, though evenness was affected by changes in richness. A metric sensitive to ecotype identity showed that the different treatments resulted in strongly differing degrees of community turnover relative to both the immediate pre-extincti作者: 搬運工 時間: 2025-3-28 06:39
Emma Medford,Dougal Julian Hare,Anja Wittkowski temporarily by mass extinction and showed little enduring change, though evenness was affected by changes in richness. A metric sensitive to ecotype identity showed that the different treatments resulted in strongly differing degrees of community turnover relative to both the immediate pre-extincti作者: Glycogen 時間: 2025-3-28 12:19 作者: 斷言 時間: 2025-3-28 18:01 作者: 的是兄弟 時間: 2025-3-28 21:24
Emanuela Manea,Paul Gissen,Simon Pope,Simon J. Heales,Spyros Batziosry assigns a special role in this process to natural selection, with theorists invoking selection both to explain the appearance of purpose, and to predict what the purpose of adaptations will be. At the same time, traditional theory recognizes that many other factors might influence the evolution o作者: Vertical 時間: 2025-3-29 02:38
Mari-Anne Vals,Sander Pajusalu,Mart Kals,Reedik M?gi,Katrin ?unap biologists T. N. C. Vidya, Sutirth Dey, N. G. Prasad, and Amitabh Joshi press for making an explicit distinction between the . and?the . of selection, and further suggest that such a distinction weighs in the three explanatory roles ascribed to organisms in past and present evolutionary research th作者: 善辯 時間: 2025-3-29 04:06 作者: Decibel 時間: 2025-3-29 10:25 作者: 缺陷 時間: 2025-3-29 12:13 作者: COW 時間: 2025-3-29 16:01 作者: DAMN 時間: 2025-3-29 21:37
Monica H. Wojcik,Klaas J. Wierenga,Lance H. Rodan,Inderneel Sahai,Sacha Ferdinandusse,Casie A. Genetto numerical explosions. This means, that the resulting numbers—so-called immense numbers—exhibit orders of magnitude beyond any physical meaning. Such a high number of possibilities cause another property—named ontic openness by the physicist W. M. Elsasser—to emerge within such systems. All biolog作者: 性上癮 時間: 2025-3-30 03:57
A. Broomfield,J. Fletcher,P. Hensman,R. Wright,H. Prunty,J. Pavaine,S. A. Joneslists typically have tiny genomes allowing deep coverage for large populations. The importance of mutualists in ecological phenomena, such as invasions, leave much room for study. Nutritional mutualists of Order Hemiptera are of interest for being long coevolved with their hosts, thus degenerated in作者: anachronistic 時間: 2025-3-30 07:07 作者: 繞著哥哥問 時間: 2025-3-30 09:15 作者: maverick 時間: 2025-3-30 14:45
Irene C. Huffnagel,Egbert J. W. Redeker,Liesbeth Reneman,Frédéric M. Vaz,Sacha Ferdinandusse,Bwee Ti59) used polygenic traits or characters to describe the relationships among a set of organisms in the form of phylogenetic trees that generally overlap the taxonomic hierarchy. Recently, phylogenetic trees are being constructed for single genes or proteins from a set of species for which sequences a作者: 撫慰 時間: 2025-3-30 17:31 作者: In-Situ 時間: 2025-3-30 23:28
O. L. M. Meijer,P. van den Biggelaar,R. Ofman,F. A. Wijburg,N. van Vliesve. It is an excellent platform for addressing topics in long-term evolution and paleobiology, such as mass extinction and recovery, with experimental evolutionary approaches. We evolved model communities with ecological interdependence among community members, which were subjected to 2?principal ty
