標(biāo)題: Titlebook: JIMD Reports - Case and Research Reports, 2012/4; Garry Brown,Eva Morava,Johannes Zschocke Book 2013 SSIEM and Springer-Verlag Berlin Heid [打印本頁] 作者: Osteopenia 時間: 2025-3-21 19:51
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書目名稱JIMD Reports - Case and Research Reports, 2012/4讀者反饋學(xué)科排名
作者: iodides 時間: 2025-3-21 22:28
Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss is a result of lysosomal α-galactosidase deficiency. High frequencies progressive sensorineural hearing loss (HL), sudden deafness, tinnitus and dizziness are otological symptoms frequently reported..A 45-year-old man with FD, on haemodialysis since age 25, complaining of progressive HL, was started 作者: 喪失 時間: 2025-3-22 03:38
Hereditary Intrinsic Factor Deficiency in Chaldeans,of insufficient Cbl are megaloblastic anemia, nutrient malabsorption, and neurological problems. The treatment is straightforward with parenteral Cbl supplementation that resolves most health issues without an urgent need to clarify their cause. Aside from being clinically unsatisfying, failing to e作者: chapel 時間: 2025-3-22 06:45 作者: anthropologist 時間: 2025-3-22 09:36 作者: FANG 時間: 2025-3-22 15:42 作者: 慷慨不好 時間: 2025-3-22 20:51 作者: 背景 時間: 2025-3-22 23:52 作者: 天文臺 時間: 2025-3-23 04:10 作者: wall-stress 時間: 2025-3-23 07:04 作者: inspiration 時間: 2025-3-23 10:14
Autism Spectrum Disorder in a Child with Propionic Acidemia,interests. While autism does not have an identifying cause in most of the cases, it is associated with known medical conditions in at least 10% of cases. Although uncommon, cases of autism have also been reported in association with metabolic disorders. In this brief report, we describe the occurren作者: 豪華 時間: 2025-3-23 15:31 作者: 小步舞 時間: 2025-3-23 20:50 作者: 依法逮捕 時間: 2025-3-24 01:45
In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography,er-recognized finding in patients with Pompe disease, but there is emerging evidence that loss of muscle function and mobility can lead to loss of mineral content and a higher risk of fracture. In addition to the mineral content, architecture is also important in determining the overall strength of 作者: 柔美流暢 時間: 2025-3-24 03:26
,A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epiird enzyme in the Leloir pathway of galactose metabolism. Clinical severity of epimerase deficiency ranges from potentially lethal to apparently benign, likely reflecting the extent of GALE enzyme impairment, among other factors. We report here a case study of monozygotic twins identified by newborn作者: 攝取 時間: 2025-3-24 07:02
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabbry mutation D313Y is doubted, because, in general, D313Y patients do not present clinical manifestations conformable with Fabry disease. This is in contrast to the analysis of the alpha-galactosidase A activity, which is reduced in D313Y patients. We report a comprehensive clinical, biochemical and作者: membrane 時間: 2025-3-24 11:15 作者: 啤酒 時間: 2025-3-24 17:50
Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU, This study describes dietary composition and nutritional status in late-diagnosed adult patients adhering to a PKU diet...: Nineteen patients, followed at Oslo University Hospital in Norway, participated; median age was 48 years (range 26–66). Subjects were mild to severely mentally retarded. Food 作者: GROVE 時間: 2025-3-24 19:29 作者: Benzodiazepines 時間: 2025-3-25 01:30
Eugène F. Diekman,Carolien C. A. Boelen,Berthil H. C. M. T. Prinsen,Lodewijk IJlst,Marinus Duran,Tom. The most dramatic evidence of cardiovascular disease comes from autopsy studies on young individuals in Bogalusa. Such findings have been extended by the Pathologic Determinants of Atherosclerosis in Youth and very strong correlations occur at autopsy between ante mortem clinical cardiovascular ri作者: AMITY 時間: 2025-3-25 06:02
Carla Pinto Moura,Carlos Soares,Daniela Seixas,Margarida Ayres-Bastos,Jo?o Paulo Oliveiravations from the Bogalusa Heart Study suggest different mechanisms are involved in their control and are influenced by ethnicity and gender. Heart rate seems to have a greater central autonomic control, being slower in black children than in white children, while risk factors, heart rate and BP are 作者: 調(diào)整校對 時間: 2025-3-25 10:16 作者: blackout 時間: 2025-3-25 13:07
Christiaan P Sentner,Yvonne J Vos,Klary N Niezen-Koning,Bart Mol,G Peter A. Smitharacterized by increased tooth crown height and adaptations for burrowing, jumping, or running) becoming common as open and arid habitats spread. These studies have primarily focused on continental scale analyses, but comparisons of regional and local scale changes are key to understanding how indi作者: irreparable 時間: 2025-3-25 17:47 作者: Common-Migraine 時間: 2025-3-25 19:59 作者: 監(jiān)禁 時間: 2025-3-26 02:02 作者: Fermentation 時間: 2025-3-26 06:14
Stuart Lavery,Dima Abdo,Mara Kotrotsou,Geoff Trew,Michalis Konstantinidis,Dagan Wells with the mechanisms that underpin the sensory-motor repertoire of the robots. In particular, we study the evolution of behavioral and communicative skills in a categorization task. The individual decision-making structures are based on the integration over time of sensory information. The mechanism作者: 起草 時間: 2025-3-26 10:40 作者: Amnesty 時間: 2025-3-26 16:30
J. H. Paul Wilson,Maarten Sinaasappel,Fred K. Lotgering,Janneke G. Langendonkmplex processes leading progressively to the establishment of human-like languages. In this framework, a globally shared vocabulary emerges as a result of local adjustments of individual word-meaning association. The emergence of a common vocabulary only represents a first stage while it is interest作者: 氣候 時間: 2025-3-26 19:20
M. Al-Owain,N. Kaya,H. Al-Shamrani,A. Al-Bakheet,A. Qari,S. Al-Muaigl,M. Ghaziuddinelop over the next 20 years. Space operations have long been critical for national security; providing intelligence, surveillance and reconnaissance (ISR) capabilities from on high since the late 1950s. Predictably, American and international space assets have evolved exponentially since those early作者: 小蟲 時間: 2025-3-26 21:45 作者: 粉筆 時間: 2025-3-27 03:27
Tereza Moore,Jonathan A. Bernstein,Sylvie Casson-Parkin,Tina M. Cowanm. The analysis focuses on the division of responsibilities between Sinohydro and China Exim Bank on the one side and the Ghanaian government on the other side. The findings show that environmental and resettlement planning for Bui was commissioned and financed by the Government of Ghana without Sin作者: Badger 時間: 2025-3-27 09:00 作者: Lucubrate 時間: 2025-3-27 10:00
Ying Liu,Kristi Bentler,Bradford Coffee,Juliet S. Chhay,Kyriakie Sarafoglou,Judith L. Fridovich-Keilexample, whether or not there is a culinary-tourism market segment. Or, does destination’s gastronomy contribute to the tourists’ quality of experiences while visiting the destination? And, do tourists return to the destination to re-sample its cuisine? The most recent literature suggests that gastr作者: epinephrine 時間: 2025-3-27 17:31 作者: 離開就切除 時間: 2025-3-27 18:08
Katja M J Heitink-Pollé,Berthil H. C. M. T. Prinsen,Tom J de Koning,Peter M van Hasselt,Marc B Bieri. This volume is an attempt to gather together and review the new results and de- velopments achieved by researchers from various fields during the last few years. The contents bear witness to the great success in the development of general approaches to synergetic systems as well as remarkable prog作者: 縫紉 時間: 2025-3-28 01:30
Ingrid Wiig,Kristina Motzfeldt,Elin Bj?rge L?ken M.Sc.,Bengt Frode Kaseh birthday. This volume is an attempt to gather together and review the new results and de- velopments achieved by researchers from various fields during the last few years. The contents bear witness to the great success in the development of general approaches to synergetic systems as well as remar作者: 槍支 時間: 2025-3-28 03:30
Laura Deroma,Annalisa Sechi,Andrea Dardis,Daniela Macor,Giulia Liva,Giovanni Ciana,Bruno Bembics is interpreted as the science which can solve that problem: order arises stochastically as self-simplification, i.e., the macroscopic reduction of microscopic degrees of freedom. Synergetics has been successfully applied to biological movement. In the present paper, two further steps in that proc作者: tinnitus 時間: 2025-3-28 08:27 作者: 集聚成團 時間: 2025-3-28 13:58 作者: Hippocampus 時間: 2025-3-28 18:30 作者: AER 時間: 2025-3-28 19:38 作者: 傲慢物 時間: 2025-3-29 00:54
Garry Brown,Eva Morava,Johannes ZschockeUnique 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: Ossification 時間: 2025-3-29 04:55 作者: 沒有希望 時間: 2025-3-29 09:18
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 clinica作者: 帳單 時間: 2025-3-29 14:11
Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency,fatty acid oxidation disorder. Liver histology showed diffuse, predominately macrovesicular steatosis, hepatocellular and canalicular cholestasis but no bile duct paucity or evidence of large duct obstruction. The liver dysfunction resolved in 4–7 weeks.作者: 深淵 時間: 2025-3-29 17:35 作者: IVORY 時間: 2025-3-29 19:50 作者: Largess 時間: 2025-3-30 03:43
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.978-3-642-32441-3978-3-642-32442-0Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 沙漠 時間: 2025-3-30 05:53
Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embrngle cell embryo biopsy and PGD for the detection of two different mutations in the (PAH) gene. This case highlights both an important scientific development as well as the ethical challenge in offering couples who carry PKU this new reproductive option when starting their family.作者: Keratin 時間: 2025-3-30 10:35 作者: 起波瀾 時間: 2025-3-30 16:12 作者: 王得到 時間: 2025-3-30 18:12
Ingrid Wiig,Kristina Motzfeldt,Elin Bj?rge L?ken M.Sc.,Bengt Frode Kasenn Haken‘ s scientific work, has stimulated epistemo- logical studies that draw relations between synergetics and the German romantic "Naturphilosophie". It is 978-3-642-84783-7978-3-642-84781-3Series ISSN 0930-8989 Series E-ISSN 1867-4941 作者: Ondines-curse 時間: 2025-3-30 23:19 作者: 熱心 時間: 2025-3-31 02:50 作者: 煩憂 時間: 2025-3-31 06:11 作者: frozen-shoulder 時間: 2025-3-31 11:36
Amy C. Sturm,Elizabeth C. Baack,Michael B. Armstrong,Deborah Schiff,Ayesha Zia,Sureyya Savasan,Alberbiological research, and presenting a broad array of unpublished examples and case studies. The?book is mainly aimed to professional palaeobiologists working with Cenozoic land mammals, but?the scope of the book is broad enough to fit the interest for evolutionary biologists, paleoclimatologists and作者: 領(lǐng)先 時間: 2025-3-31 15:50
Christiaan P Sentner,Yvonne J Vos,Klary N Niezen-Koning,Bart Mol,G Peter A. Smit earlier in relatively cool, arid regions at higher latitudes. Findings suggest topographic complexity and volcanic activity potentially drove aspects of ecomorphological evolution in rodents and lagomorphs. The attributes of open and arid-adapted taxa likely facilitated their spread from tectonical作者: Medicare 時間: 2025-3-31 19:16 作者: 正式通知 時間: 2025-4-1 01:31
Mónica Yasmín Ni?o,Heidi Eliana Mateus,Dora Janeth Fonseca,Marian A. Kroos,Sandra Yaneth Ospina,Juanerbivores, and we touch on biases in human gossip. Experiments with artificial embodied and communicating agents confirm that when there are conflicts of interest among agents, deception readily evolves. Finally, we consider signaling among super-organisms and the possible implications for understan作者: 敘述 時間: 2025-4-1 01:50
Stuart Lavery,Dima Abdo,Mara Kotrotsou,Geoff Trew,Michalis Konstantinidis,Dagan Wells explicit selective pressure coded in the fitness function. The evolution of communication is neither trivial nor obvious; for a meaningful signaling system to evolve, evolution must produce both appropriate signals and appropriate reactions to signals. The use of communication proves to be adaptive作者: arthroplasty 時間: 2025-4-1 09:17
S. Yano,C. Li,Z. Pavlova (9)?influences human cognition. Communication presupposes a shared worldview which depends on the brain, body, and adaptive pattern of the organisms that want to communicate, and this represents a critical challenge also for communication between robots and us.作者: expdient 時間: 2025-4-1 11:03 作者: Motilin 時間: 2025-4-1 15:21 作者: Irritate 時間: 2025-4-1 22:09
