標(biāo)題: Titlebook: JIMD Reports, Volume 22; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men [打印本頁(yè)] 作者: Stimulant 時(shí)間: 2025-3-21 19:25
書(shū)目名稱(chēng)JIMD Reports, Volume 22影響因子(影響力)
作者: implore 時(shí)間: 2025-3-21 20:27 作者: somnambulism 時(shí)間: 2025-3-22 03:47 作者: gonioscopy 時(shí)間: 2025-3-22 07:35 作者: harrow 時(shí)間: 2025-3-22 09:50
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IM expectancy. Clinical care in any one centre is constrained by small patient numbers; and furthermore diagnostic and treatment strategies vary between metabolic centres and countries, resulting in significant inequalities and disparity in patient outcome.../.: The overall objective of the EU-funded 作者: AROMA 時(shí)間: 2025-3-22 15:03 作者: Reclaim 時(shí)間: 2025-3-22 18:19
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerechromosome 2p13-3, the methylmalonyl-CoA epimerase gene (.) and the sepiapterin reductase gene (.)...: The patient was born from consanguineous parents. He has presented a moderate but constant methylmalonic acid (MMA) excretion in urine associated with a mental retardation. The first homozygous mut作者: Assault 時(shí)間: 2025-3-22 22:36 作者: Texture 時(shí)間: 2025-3-23 01:40 作者: 頌揚(yáng)國(guó)家 時(shí)間: 2025-3-23 09:08
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for Xy (AMN), which is characterised by involvement of the spinal cord and peripheral nerves. The aim of this study was to evaluate bladder and bowel symptoms in men with AMN and female X-ALD carriers...: In this cross-sectional study, patients with confirmed mutation of the ABCD1 gene attending a tertia作者: chlorosis 時(shí)間: 2025-3-23 10:19 作者: 兵團(tuán) 時(shí)間: 2025-3-23 15:16
Girls with Seizures Due to the c.320A>G Variant in , Do Not Show Abnormal Glycosylation Pattern on agnosis despite an extensive genetic and metabolic evaluation. She initially manifested infantile spasms which responded to high-dose ACTH. Seizures seemed to resolve, but then at age 5, she developed complex partial seizures resistant to antiepileptics that responded to a ketogenic diet. Additional作者: alcohol-abuse 時(shí)間: 2025-3-23 19:27 作者: IST 時(shí)間: 2025-3-23 23:32
Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation () mutations from a disease registry, the Fabry Outcome Survey (FOS; sponsored by Shire). Most of our classical Fabry patients were symptomatic and were identified upon seeking medical advice at our clinics, whereas most of our IVS4 patients attended our clinics after newborn screening identified thi作者: 影響深遠(yuǎn) 時(shí)間: 2025-3-24 02:27 作者: Factual 時(shí)間: 2025-3-24 06:59 作者: CUB 時(shí)間: 2025-3-24 14:44 作者: chronicle 時(shí)間: 2025-3-24 17:49 作者: 無(wú)能性 時(shí)間: 2025-3-24 19:42
Joanne T. Marsden,Simon Guppy,Penelope Stein,Timothy M. Cox,Michael Badminton,Tricia Gardiner,Julian the rules of the PhysioNet/Computing in Cardiology Challenge 2011 (Moody, Comput Cardiol Challenge 38:273–276, 2011), whose aim is to develop an efficient algorithm able to run within a mobile phone that can provide useful feedback when acquiring a diagnostically useful 12-lead Electrocardiography 作者: Bombast 時(shí)間: 2025-3-24 23:51 作者: 牽連 時(shí)間: 2025-3-25 05:54 作者: Isometric 時(shí)間: 2025-3-25 07:53
Masa-aki Kawashiri,Hayato Tada,Marowa Hashimoto,Matsuo Taniyama,Takamitsu Nakano,Katsuyuki Nakajima,em and leaving behind product DNA strands, which they are able to revisit. The cleavage and detachment from substrates together take more time than the detachment from products. This difference in residence time between substrates and products, in conjunction with the plurality of the legs, makes a 作者: 都相信我的話 時(shí)間: 2025-3-25 13:45
Bethanny Smith-Packard,Scott M. Myers,Marc S. Williamsherapeutic decisions. In recent years, the use of gene expression profiling in combination with the clinical and histological criteria traditionally used in such a prediction has been successfully introduced. Sets of genes whose expression values in a tumor can be used to predict the outcome of the 作者: Conscientious 時(shí)間: 2025-3-25 19:51
Stefanie Kung,Mark Walters,Peter Claes,Peter LeSouef,Jack Goldblatt,Andrew Martin,Shanti Balasubrama. Vor rund 300 Jahren taufte uns Carl von Linné, der gro?e schwedische Klassifikator der Tiere und Pflanzen, auf den Namen ., der kluge Mensch. Und er schrieb auch: ?.“. (?Mensch. Kenne dich selbst.“) Damit griff er einen altgriechischen Wahlspruch auf, gab ihm aber einen neuen Dreh: Wir sollten uns作者: 吹牛大王 時(shí)間: 2025-3-25 22:22 作者: 非實(shí)體 時(shí)間: 2025-3-26 00:57
Anna Ardissone,Tiziana Granata,Andrea Legati,Daria Diodato,Laura Melchionda,Eleonora Lamantea,Barbarses: (1) disorder’s tendency to increase in isolated systems (the second law of thermodynamics) and (2) Darwinian selection, which produces orderly entities that can withstand the second law. Darwinian processes generate complex order not just in the biological domain but in all five domains of natu作者: CANON 時(shí)間: 2025-3-26 04:42 作者: 使乳化 時(shí)間: 2025-3-26 08:34 作者: Diastole 時(shí)間: 2025-3-26 13:40 作者: needle 時(shí)間: 2025-3-26 17:52 作者: crutch 時(shí)間: 2025-3-26 23:49
Johannes Zschocke,Matthias Baumgartner,Verena PeteUnique 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: 浸軟 時(shí)間: 2025-3-27 03:05
JIMD Reportshttp://image.papertrans.cn/j/image/500060.jpg作者: 擋泥板 時(shí)間: 2025-3-27 05:41
2192-8304 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.978-3-662-47452-5978-3-662-47453-2Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: ferment 時(shí)間: 2025-3-27 10:52
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 clinical作者: TSH582 時(shí)間: 2025-3-27 17:34
Mitochondrial Complex III Deficiency Caused by , Defects: Report of a Novel Mutation and Review of 19, a putative assembly factor for cIII. To date . mutations have been reported only in few cases, invariably associated with cIII deficiency, but presenting heterogeneous clinical phenotypes. We reviewed the genetic, biochemical, clinical and neuroradiological features of . mutant patients described to date.作者: FOIL 時(shí)間: 2025-3-27 19:14
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism,ted low CSF and plasma asparagine in both patients...: Clinicians should suspect ASD deficiency in any newborn presented with severe congenital microcephaly followed by severe epileptic encephalopathy and global developmental delay. CSF asparagine level is low in this disorder while plasma may be low.作者: spinal-stenosis 時(shí)間: 2025-3-28 01:38
Wladimir Mauhin,Olivier Lidove,Elisa Masat,Federico Mingozzi,Kuberaka Mariampillai,Jean-Marc Ziza,Olt hat, hat uns viel neue Information geliefert, die zwar den Spielraum unserer Optionen einengt, doch immer noch einander widersprechende Interpretationen erlaubt. Was ich jetzt hier vorlege, ist alles andere als das letzte Wort in einem noch andauernden Meinungsstreit. Weitere Forschungsarbeit wird作者: epicardium 時(shí)間: 2025-3-28 05:35 作者: lambaste 時(shí)間: 2025-3-28 07:36
Michel Mazzuca,Marie-Anne Maubert,Léna Damaj,Fabienne Clot,Marylène Cadoudal,Christele Dubourg,Sylviabolism..This chapter will provide an overview of the influence of the gut microbial community on host metabolism. By highlighting selected studies, the crucial function of the gut bacteria will be demonstrated. Current and future options to modulate a dysbiotic microbiota in order to improve host m作者: HIKE 時(shí)間: 2025-3-28 14:25 作者: Iatrogenic 時(shí)間: 2025-3-28 16:05 作者: Integrate 時(shí)間: 2025-3-28 19:52 作者: Morbid 時(shí)間: 2025-3-28 23:12 作者: 加劇 時(shí)間: 2025-3-29 03:50
Bethanny Smith-Packard,Scott M. Myers,Marc S. Williamsic Programming has the further advantage, with respect to other methods, of performing an automatic feature selection. Importantly, by using a weighted average between false positives and false negatives in the definition of the fitness, we showed that GP can outperform all the other methods in mini作者: 弄皺 時(shí)間: 2025-3-29 10:39
Stefanie Kung,Mark Walters,Peter Claes,Peter LeSouef,Jack Goldblatt,Andrew Martin,Shanti Balasubramaen mit Kriterien wie Schmuck und Kunst, aber auch T?tigkeiten wie Jagd und Religion. Dabei stellt sich nur das Problem, dass wir für die ferne Vergangenheit nur über sehr kurze Listen von Merkmalen verfügen, die wir überprüfen k?nnen. Und da wir keinen unabh?ngigen Gerichtshof haben, der unsere Beha作者: set598 時(shí)間: 2025-3-29 13:07
Hao-Chuan Liu,Amandine Perrin,Ting-Rong Hsu,Chia-Feng Yang,Hsiang-Yu Lin,Wen-Chung Yu,Dau-Ming Niudung. Die wichtigste L?sung für die Probleme, die sich aus ver?nderlichen Ressourcen und zwischenmenschlichen Konflikten ergaben, bestand darin, den Problemen nach dem altbew?hrten Prinzip von Aufteilung und Verschmelzung, das man noch heute bei J?gern und Sammlern beobachtet, ganz buchst?blich aus 作者: Default 時(shí)間: 2025-3-29 16:00 作者: Fibrin 時(shí)間: 2025-3-29 22:20 作者: terazosin 時(shí)間: 2025-3-30 01:00 作者: noxious 時(shí)間: 2025-3-30 06:34
Stefan K?lker,Dries Dobbelaere,Johannes H?berle,Peter Burgard,Florian Gleich,Marshall L. Summar,Stev作者: Compass 時(shí)間: 2025-3-30 11:53 作者: obscurity 時(shí)間: 2025-3-30 16:11
Innate and Adaptive Immune Response in Fabry Disease,ctiveness of enzyme replacement therapy in Fabry disease begins to be questioned and new therapeutic strategies arise such as chaperone or gene therapy, it appears necessary to better understand the immune responses observed in the treatment of naive patients and during enzyme replacement therapy wi作者: 類(lèi)似思想 時(shí)間: 2025-3-30 19:55 作者: Adulterate 時(shí)間: 2025-3-31 00:13
Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teripaed teriparatide (human parathyroid hormone (PTH; 1-34) to treat severe osteopenia. We conclude that teriparatide should be considered for further studies as an agent to improve bone mineral density in patients with Gaucher disease.作者: 親密 時(shí)間: 2025-3-31 02:19
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IM launched a website (.) including detailed information materials in 11 languages, (4) developed guidelines for OAD and UCD, (5) organised two teaching courses and various scientific meetings, (6) extended the IT platform clustering with other inherited metabolic diseases (IMD) and (7) strengthened t作者: cancer 時(shí)間: 2025-3-31 08:33
Two Novel Mutations in the , Gene in a Patient with Mitochondrial Myopathy,nts with either progressive external ophthalmoplegia (PEO) or clear hypertrophic cardiomyopathy with exercise intolerance and/or muscle weakness carrying recessive mutations leading to a complete absence of the SLC25A4 protein. Most likely in our patient, although severely reduced, SLC25A4 is still 作者: 易于 時(shí)間: 2025-3-31 11:17
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Ceresture, the mood and the hypersomnia, proving that the pathogenesis was due to SRD. A supplementation with BH4 did not induce additional clinical benefit, although HVA and HIAA increased in CSF. The polyunsaturated fatty acids were measured in CSF as the markers of the neuronal stress. We have shown 作者: Indent 時(shí)間: 2025-3-31 15:02 作者: OMIT 時(shí)間: 2025-3-31 18:17 作者: 設(shè)想 時(shí)間: 2025-4-1 01:26
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for Xmean EDSS score (.?=?25) 3.2 (95% CI?±?0.98)). Overactive bladder (OAB) symptoms were reported in both males (100%, .?=?19) and females (86.2%, .?=?25). There was no significant gender difference in severity of OAB symptoms (.?=?0.35) and impact on quality of life (.?=?0.13). Furthermore, there was 作者: Petechiae 時(shí)間: 2025-4-1 02:38
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygo87.77) had fatty liver disease, microscopic findings suggesting nonalcoholic steatohepatitis were absent. Fasting apoB-48 and RLP-triglyceride levels in the patient with homozygous FHBL, which were similar to those in normal control subjects, increased after OFTT both in normal control subjects and
