標題: Titlebook: JIMD Reports, Volume 38; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI [打印本頁] 作者: 太平間 時間: 2025-3-21 16:05
書目名稱JIMD Reports, Volume 38影響因子(影響力)
書目名稱JIMD Reports, Volume 38影響因子(影響力)學科排名
書目名稱JIMD Reports, Volume 38網絡公開度
書目名稱JIMD Reports, Volume 38網絡公開度學科排名
書目名稱JIMD Reports, Volume 38被引頻次
書目名稱JIMD Reports, Volume 38被引頻次學科排名
書目名稱JIMD Reports, Volume 38年度引用
書目名稱JIMD Reports, Volume 38年度引用學科排名
書目名稱JIMD Reports, Volume 38讀者反饋
書目名稱JIMD Reports, Volume 38讀者反饋學科排名
作者: 獎牌 時間: 2025-3-21 21:37 作者: Cpr951 時間: 2025-3-22 02:53 作者: 愛好 時間: 2025-3-22 07:16 作者: Digitalis 時間: 2025-3-22 09:24
William R. Wilcox,Ulla Feldt-Rasmussen,Ana Maria Martins,Alberto Ortiz,Roberta M. Lemay,Ana Jovanovi作者: 保存 時間: 2025-3-22 13:24 作者: Coronation 時間: 2025-3-22 20:21
Patricia L. Hall,Regina Laine,John J. Alexander,Arunkanth Ankala,Lisa A. Teot,Hart G. W. Lidov,IrinaPhage shock protein F (PspF) regulon as a model system to describe the actions and dynamics of .- and .-regulatory elements that govern the control of sigma54-dependent transcription of . genes leading to adaptation of enterobacteria to the inner membrane stress. We discuss how the interplay of . ex作者: braggadocio 時間: 2025-3-22 23:23 作者: 逃避責任 時間: 2025-3-23 03:10 作者: neutrophils 時間: 2025-3-23 06:11
Nathalie Guffon,Anders Br?ijersén,Ingrid Palmgren,Mattias Rudebeck,Birgitta OlssonPhage shock protein F (PspF) regulon as a model system to describe the actions and dynamics of .- and .-regulatory elements that govern the control of sigma54-dependent transcription of . genes leading to adaptation of enterobacteria to the inner membrane stress. We discuss how the interplay of . ex作者: 無彈性 時間: 2025-3-23 12:26 作者: Mumble 時間: 2025-3-23 13:51
Pier Luigi Calvo,Marco Spada,Ivana Rabbone,Michele Pinon,Francesco Porta,Fabio Cisarò,Stefania Reggibate, or as a guide for those looking to pursue particular lines of enquiry.?..The following chapters are organized around historical perspectives, theoretical and philosophical approaches and the use of specific biological models to inspect core ideas. Both empirical and theoretical contributions h作者: Arthr- 時間: 2025-3-23 19:17
Peter van Vliet,Annelies E. Berden,Mojca K. M. van Schie,Jaap A. Bakker,Christian Heringhaus,Irenaeuboth for the “causes” (and sources) and the “consequences” of selection, and for evolutionary dynamics and trajectories in general. Evolutionary biology cannot dispense with the successful populational models built with the mathematical tools and assumptions of quantitative and population genetics, 作者: ablate 時間: 2025-3-24 00:08 作者: Synapse 時間: 2025-3-24 02:23
Glutaric Acidemia Type 1: A Case of Infantile Stroke,gic findings during the 1 year of follow-up period...: This case is of great importance since it shows possibility of infantile stroke in GA-1, significance of early diagnosis and phenotypic variability of disease.作者: 長處 時間: 2025-3-24 06:39
Treatment of Depression in Adults with Fabry Disease,ed with improvements in mental health QOL and subjective pain severity, while improvements in mental health QOL were correlated with improvements in AF. While statistical comparison between counseling modes was not possible with the given sample size, relevant observations were noted. Recommendation作者: 使尷尬 時間: 2025-3-24 10:58 作者: MAUVE 時間: 2025-3-24 18:06
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to , Gene Mutations,l management..Specific biochemical studies are indicated to identify the type of LSM, such as level of free carnitine and acyl-carnitines and studies or organic acidemia. Indeed, when a patient is biochemically diagnosed with secondary carnitine deficiency, a follow-up with appropriate clinical-mole作者: 心痛 時間: 2025-3-24 19:04
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Femalestinal symptoms (abdominal pain, diarrhea). Outcomes at baseline and last follow-up, and their change from baseline to last follow-up, were assessed. Relevant data were available for 168 female patients. Mean age at the start of ERT was 43 years and mean treatment duration 5.7 years. Baseline pre-t作者: 確定無疑 時間: 2025-3-24 23:56 作者: upstart 時間: 2025-3-25 06:09
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in ,,on 2 of . could not be amplified by PCR, raising suspicion for a large, homozygous deletion. Subsequent copy number analysis confirmed a homozygous deletion of exon 2 in .. This is the first reported case of GM2A deficiency being caused by a whole exon deletion. We describe previously unreported ele作者: 慌張 時間: 2025-3-25 07:53
,Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in ,Deficient Mictes hepatic peroxisomal fatty acid β-oxidation at the transcriptional level. In contrast, the transcriptional stimulation of . and . by Lorenzo’s oil does not cause changes in the serum fatty acid level. It seems likely that the inhibition of these elongation activities by Lorenzo’s oil results in a作者: Organization 時間: 2025-3-25 12:59 作者: addict 時間: 2025-3-25 16:07 作者: 言行自由 時間: 2025-3-25 19:57 作者: intention 時間: 2025-3-26 03:54 作者: ENACT 時間: 2025-3-26 07:00 作者: 不公開 時間: 2025-3-26 10:20 作者: photophobia 時間: 2025-3-26 14:41 作者: DRILL 時間: 2025-3-26 16:54 作者: 突襲 時間: 2025-3-26 23:39 作者: 我不明白 時間: 2025-3-27 02:48 作者: extinct 時間: 2025-3-27 06:56 作者: 木訥 時間: 2025-3-27 09:36
Treatment of Depression in Adults with Fabry Disease,n, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial eff作者: 詳細目錄 時間: 2025-3-27 14:18 作者: 銼屑 時間: 2025-3-27 18:28 作者: 帽子 時間: 2025-3-28 01:21 作者: 貞潔 時間: 2025-3-28 05:20
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Femaly disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to 作者: dowagers-hump 時間: 2025-3-28 09:58
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiens in a number of disorders, including GLUT1 deficiency syndrome (GLUT1-DS). Because high-fat diet raises serious compliance issues, we investigated if oral .,.-3-hydroxybutyrate administration could be as effective as ketogenic diet in PDHD and GLUT1-DS...: We designed a partial or total progressive作者: ANTH 時間: 2025-3-28 12:25
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in ,, is almost indistinguishable from Tay-Sachs disease (OMIM 272800) or Sandhoff disease (OMIM 268800); however, traditionally available biochemical screening tests will most likely reveal normal results. We report a 2-year-old male with initially normal development until the age of 9 months, when he p作者: 比目魚 時間: 2025-3-28 18:07
,Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in ,Deficient Micstrophy (ALD) patients. However, the involvement of Lorenzo’s oil in in vivo fatty acid metabolism has not been well elucidated. To investigate the effect of Lorenzo’s oil on fatty acid metabolism, we analyzed the hepatic gene expression together with the serum fatty acid level in Lorenzo’s oil-trea作者: exceed 時間: 2025-3-28 21:02 作者: 寄生蟲 時間: 2025-3-29 02:27 作者: Cerumen 時間: 2025-3-29 04:16
A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessmen of the drug; as a result, these assays have become an important part of pharmacokinetic (PK) and pharmacodynamic assessments in ERT trials. This paper presents a two-step enzymatic activity assay for iduronate-2-sulfatase (I2S) (EC 3.1.6.13) which we have optimized to fit in 1 day and to complete 作者: 轉向 時間: 2025-3-29 10:31
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hyonths, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing 作者: Crayon 時間: 2025-3-29 12:20 作者: 協定 時間: 2025-3-29 16:26
Patricia L. Hall,Regina Laine,John J. Alexander,Arunkanth Ankala,Lisa A. Teot,Hart G. W. Lidov,Irina. Transcription in bacteria is controlled by RNA polymerase containing the housekeeping sigma factor(s) or the alternative, e.g. sigma54 factor, its function being regulated via bacterial enhancer binding proteins. Elaboration of the enhancer DNA sequence acting . with the RNA polymerase is believed作者: fibroblast 時間: 2025-3-29 23:38 作者: orient 時間: 2025-3-30 01:37 作者: Ancestor 時間: 2025-3-30 06:24
Nathalie Guffon,Anders Br?ijersén,Ingrid Palmgren,Mattias Rudebeck,Birgitta Olsson. Transcription in bacteria is controlled by RNA polymerase containing the housekeeping sigma factor(s) or the alternative, e.g. sigma54 factor, its function being regulated via bacterial enhancer binding proteins. Elaboration of the enhancer DNA sequence acting . with the RNA polymerase is believed作者: 怎樣才咆哮 時間: 2025-3-30 09:12 作者: Adenocarcinoma 時間: 2025-3-30 12:53
Pier Luigi Calvo,Marco Spada,Ivana Rabbone,Michele Pinon,Francesco Porta,Fabio Cisarò,Stefania Reggiterest for discussion, but more importantly draws together hypotheses and future research directions...The Modern Synthesis (MS), sometimes referred to as Standard Evolutionary Theory (SET), in evolutionary biology has been well documented and discussed, but was also critically scrutinized over the 作者: 創(chuàng)造性 時間: 2025-3-30 17:35
Peter van Vliet,Annelies E. Berden,Mojca K. M. van Schie,Jaap A. Bakker,Christian Heringhaus,Irenaeu 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: 褲子 時間: 2025-3-30 21:01
2192-8304 Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)‘ is open access under a CC BY 4.0 license via link.springer.com..978-3-662-56609-1978-3-662-56610-7Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: MOCK 時間: 2025-3-31 04:40
Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolismsions during pregnancy, while the patient with HMG-CoA lyase deficiency remained metabolically stable. Both patients, nevertheless, had normal delivery of live-born infants and had uneventful postpartum period.
