作者: Banister 時(shí)間: 2025-3-21 21:00
Dèlia Yubero,Raquel Montero,Mar O’Callaghan,Mercè Pineda,Silvia Meavilla,Veronica Delgadillo,Cristined in a reductionist manner and the daily practice of diagnosis and therapy. By now, the gap between medical theory and therapeutic practice has been further operationalized by a formal-pragmatic communication theory that tends to only care for the transparency of basic concepts, i.e., the universal作者: 真實(shí)的你 時(shí)間: 2025-3-22 03:45
Imre F. Schene,Viera Kalinina Ayuso,Monique de Sain-van der Velden,Koen L. I. van Gassen,Inge Cuppenubs, nodes) physically rationalized, functionally established, and even protected? The inseparable relation between rationalization processes and normative notions may be shown at three observational levels. (1) For many reasons, normative notions do not constitute a posteriori classifying phrases o作者: 暖昧關(guān)系 時(shí)間: 2025-3-22 05:33 作者: 指派 時(shí)間: 2025-3-22 10:42 作者: AIL 時(shí)間: 2025-3-22 15:55 作者: sacrum 時(shí)間: 2025-3-22 17:52 作者: 最有利 時(shí)間: 2025-3-23 00:06 作者: Mendicant 時(shí)間: 2025-3-23 02:35
Mari K?rki,Kirsti N?nt?-Salonen,Harri Niinikoski,Laura M. Tannermale physical attractiveness is considered to be largely a reflection of her potential reproductive success. Recent research suggests that male physical attractiveness is also based upon the same criterion. Reproductive success is defined as the optimum (for a given environment) number of children s作者: 慎重 時(shí)間: 2025-3-23 05:44 作者: pineal-gland 時(shí)間: 2025-3-23 13:37
Jabin Rafiq,Morten Duno,Elsebet ?stergaard,Kirstine Ravn,Christoffer R. Vissing,Flemming Wibrand,Johbegins with an upper GA that searches for appropriate functional forms given a user defined set of primitives and the candidate independent variables. Each functional form is encoded as a tree structure, where variables, coefficients and functional primitives are linked. The functional forms are sen作者: 粗魯性質(zhì) 時(shí)間: 2025-3-23 15:26
D. Coman,P. Lewindon,P. Clayton,K. Rineyhis property ensures robustness and universal applicability. On the other hand direct optimization usually requires a lot of computational effort (goal function evaluations) to ensure optimization success (convergence towards a globally-optimal region of the search space) and an acceptable quality o作者: travail 時(shí)間: 2025-3-23 20:36 作者: 嘴唇可修剪 時(shí)間: 2025-3-24 01:18 作者: 小卒 時(shí)間: 2025-3-24 04:11
A. Khanna,R. Gish,S. C. Winter,W. L. Nyhan,B. A. Barshopgorithms.A new empirical tool for comparing search and optimDespite decades of work in evolutionary algorithms, there remains a lot of uncertainty as to when it is beneficial or detrimental to use recombination or mutation. This book provides a characterization of the roles that recombination and mu作者: 消瘦 時(shí)間: 2025-3-24 08:53
Ozlem Goker-Alpan,Michael J. Gambello,Gustavo H. B. Maegawa,Khan J. Nedd,Daniel J. Gruskin,Larry Blagorithms.A new empirical tool for comparing search and optimDespite decades of work in evolutionary algorithms, there remains a lot of uncertainty as to when it is beneficial or detrimental to use recombination or mutation. This book provides a characterization of the roles that recombination and mu作者: synchronous 時(shí)間: 2025-3-24 13:40
Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type Inoglycans (GAGs). Previously, we reported a secondary plasma coenzyme Q. (CoQ) deficiency in MPS patients. For this study, nine MPS patients were recruited in the Hospital Sant Joan de Déu (HSJD, Barcelona) and two patients in the Neurometabolic Unit, National Hospital (NMU, London), to explore the 作者: 數(shù)量 時(shí)間: 2025-3-24 15:56
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion,nding clinical phenotype. Here, we report the striking diagnostic history of late-onset neuraminidase deficiency in two sisters, currently aged 14 (patient 1) and 15 (patient 2)..Patient 1 was referred for evaluation of her vision after a traffic accident. During this examination, nummular cataract,作者: 外向者 時(shí)間: 2025-3-24 21:15
New Cases of , Mutations in Patients with 2-Ketoadipic Aciduria,etoadipic, 2-aminoadipic, and 2-hydroxyadipic acids. Patients with the aforementioned biochemical profile have been described with a wide range of clinical presentations, from early-onset developmental delay, epilepsy, ataxia, and microcephaly to completely normal. This broad range of phenotypes has作者: Hiatus 時(shí)間: 2025-3-25 01:47 作者: embolus 時(shí)間: 2025-3-25 05:13
The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease,e enzyme activities of intestinal sucrase-isomaltase and maltase-glucoamylase are reduced in the patient, while that of lactase is comparable to the control. The association of SI with lipid rafts is reduced in the patient’s biopsy as a consequence of altered composition of membrane microdomains. As作者: 種族被根除 時(shí)間: 2025-3-25 11:26 作者: Individual 時(shí)間: 2025-3-25 12:23
Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib, objective of the present study was to investigate the efficacy of vitamin E on the neutropenia, neutrophil dysfunction and IBD in the entire Italian caseload of GSD1b patients...: Eighteen GSD1b patients, median age at the time of the study protocol 14.5 (range, 0.6–42 years), were enrolled from fo作者: machination 時(shí)間: 2025-3-25 18:26 作者: 花束 時(shí)間: 2025-3-25 21:19 作者: 思想 時(shí)間: 2025-3-26 03:11 作者: 存心 時(shí)間: 2025-3-26 06:12 作者: Texture 時(shí)間: 2025-3-26 10:17
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute mutation causes a deficiency in the porphobilinogen deaminase enzyme, thereby causing an accumulation of heme precursors (δ-aminolevulinic acid and porphobilinogen). These neurotoxic heme precursors elicit acute neurovisceral attacks, which can be treated with heme-arginate infusions. Some patients作者: 作繭自縛 時(shí)間: 2025-3-26 13:22 作者: 不如樂(lè)死去 時(shí)間: 2025-3-26 16:49 作者: 閑蕩 時(shí)間: 2025-3-27 00:45
Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsid 0.2?mg/kg and 1.0?mg/kg every other week (EOW), respectively...: This open-label, multicenter, exploratory phase 4 study evaluated plasma globotriaosylsphingosine (lyso-GL-3) and plasma and urine globotriaosylceramide (GL-3) levels at baseline and 2, 4, and 6 months after the switch from agalsidase作者: BALE 時(shí)間: 2025-3-27 01:55
Book 2016JIMD 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: ICLE 時(shí)間: 2025-3-27 09:08
https://doi.org/10.1007/978-3-662-49668-8inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic 作者: enfeeble 時(shí)間: 2025-3-27 12:45
978-3-662-49667-1SSIEM and Springer-Verlag Berlin Heidelberg 2016作者: 直覺(jué)好 時(shí)間: 2025-3-27 16:58
JIMD Reports, Volume 25978-3-662-49668-8Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: fleeting 時(shí)間: 2025-3-27 20:06
Eva Morava,Matthias Baumgartner,Verena PetersUnique 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: Instrumental 時(shí)間: 2025-3-27 23:03 作者: 遠(yuǎn)地點(diǎn) 時(shí)間: 2025-3-28 03:11
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.978-3-662-49667-1978-3-662-49668-8Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: Factual 時(shí)間: 2025-3-28 06:27 作者: 切割 時(shí)間: 2025-3-28 12:23
The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease,ata explain reduced carbohydrate digestion in the intestinal lumen and delineate the effect of deficient cholesterol and sphingolipid homeostasis in development of gastrointestinal symptoms in NPC patients.作者: NAV 時(shí)間: 2025-3-28 17:25
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?,rhosis in PNPO deficiency. The pathogenesis is unclear but may be related to epigenetic activation of purinergic signaling in the hepatic stellate cells. PNPO deficiency may in time prove to be a suitable candidate for consideration of therapeutic orthotropic liver transplantation in select patients.作者: Arthropathy 時(shí)間: 2025-3-28 21:13 作者: mortgage 時(shí)間: 2025-3-29 01:00 作者: 羞辱 時(shí)間: 2025-3-29 05:50
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion,ar osteonecrosis of the right femur head at age 9..Urinary oligosaccharide patterns and enzyme activity revealed neuraminidase deficiency in both patients. Urinary-bound sialic acid levels were normal. Sequencing of . demonstrated two known compound heterozygous mutations (c.1195_1200dup p.His399_Ty作者: 有毛就脫毛 時(shí)間: 2025-3-29 10:57 作者: 經(jīng)典 時(shí)間: 2025-3-29 13:24 作者: 痛打 時(shí)間: 2025-3-29 18:30
Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib,ount (1,583?±?668 vs. 941?±?809, .?=?0.03) higher during vitamin E supplementation. Neutrophil function results improved during vitamin supplementation. PCDAI showed a significant reduction in the inflammatory activity during vitamin E supplementation (9?±?1.4 vs. 13?±?1.2, .?=?0.006). In seven pati作者: 種類(lèi) 時(shí)間: 2025-3-29 23:16 作者: 彎曲道理 時(shí)間: 2025-3-30 02:54
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings,carried out in 11 unrelated cases, identified seven different mutations, four previously described (p.I250T, c.1161+6532_polyA+9kbdel, p.K139del, p.D187V) and three novel mutations (p.D610A, c.583-1 G>C, p.W132X), and seven distinct genotypes. The most prevalent mutation was mutation p.I250T, first 作者: Capture 時(shí)間: 2025-3-30 06:59 作者: 不朽中國(guó) 時(shí)間: 2025-3-30 10:32 作者: 冰雹 時(shí)間: 2025-3-30 14:19 作者: 追蹤 時(shí)間: 2025-3-30 17:32 作者: 意外的成功 時(shí)間: 2025-3-30 21:05
Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidean percentage reduction from baseline was 39.5% (.?
作者: TOM 時(shí)間: 2025-3-31 01:33 作者: cathartic 時(shí)間: 2025-3-31 08:03
Dèlia Yubero,Raquel Montero,Mar O’Callaghan,Mercè Pineda,Silvia Meavilla,Veronica Delgadillo,Cristinn processes that are concretely responsible for the fail-safe constitution (robustness) of tumor-associated normative notions. The first diagnostic step is to reconstruct the prerequisites for the situative identity and function of the systems objects (cells, pathways, etc.) in a tumor system. The r作者: sleep-spindles 時(shí)間: 2025-3-31 09:37
