標(biāo)題: Titlebook: JIMD Reports - Case and Research Reports, 2012/5; Johannes Zschocke,K Michael Gibson,Verena Peters Book 2013 SSIEM and Springer-Verlag Ber [打印本頁] 作者: Boldfaced 時間: 2025-3-21 20:04
書目名稱JIMD Reports - Case and Research Reports, 2012/5影響因子(影響力)
書目名稱JIMD Reports - Case and Research Reports, 2012/5影響因子(影響力)學(xué)科排名
書目名稱JIMD Reports - Case and Research Reports, 2012/5網(wǎng)絡(luò)公開度
書目名稱JIMD Reports - Case and Research Reports, 2012/5網(wǎng)絡(luò)公開度學(xué)科排名
書目名稱JIMD Reports - Case and Research Reports, 2012/5被引頻次
書目名稱JIMD Reports - Case and Research Reports, 2012/5被引頻次學(xué)科排名
書目名稱JIMD Reports - Case and Research Reports, 2012/5年度引用
書目名稱JIMD Reports - Case and Research Reports, 2012/5年度引用學(xué)科排名
書目名稱JIMD Reports - Case and Research Reports, 2012/5讀者反饋
書目名稱JIMD Reports - Case and Research Reports, 2012/5讀者反饋學(xué)科排名
作者: separate 時間: 2025-3-21 23:59 作者: Carcinogen 時間: 2025-3-22 04:06
A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine,ns of (E, E)-2, 4-undecadienal (0.1–100 ppm)...: All except one could detect the characteristic trimethylamine odour at varying concentrations (12.5–10,000 μmol/L) and reported the odour as offensive and fish like. There was a dose response effect of the ability of (E, E)-2, 4-undecadienal to deodor作者: GUILE 時間: 2025-3-22 08:20
Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogeeaches the small intestine due to rapid gastric emptying (Tack et al. 2009; Hejazi et al. 2010). We suppose that CNGDF induced a disturbance of gastric motility with a gastric accumulation of fluids at a certain time of the night followed by a rapid voiding of the stomach leading to DS.作者: Discrete 時間: 2025-3-22 10:32
A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-inva an emerging methodology known as dysmorphometrics. This facilitated simultaneous identification of harmonic and discordant facial regions. A relative significant discordance (RSD) score quantified proportional facial discordance for a given individual, whilst a root-mean-squared-error (RMSE) score 作者: crumble 時間: 2025-3-22 13:02 作者: 公司 時間: 2025-3-22 18:57
Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Fol the concept that the 1.0 mg/kg EOW dose of agalsidase beta is more effective than agalsidase alfa at 0.2 mg/kg EOW, while others believe that at recommended dose, the preparations are equivalent. In light of these difficulties and the uncertainties with respect to supply of agalsidase beta, recomme作者: 易彎曲 時間: 2025-3-23 00:07 作者: invulnerable 時間: 2025-3-23 03:49 作者: Fallibility 時間: 2025-3-23 06:08 作者: 繁榮中國 時間: 2025-3-23 12:35
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, is more common than in the normal population... The growth velocity showed acceleration after diagnosis and the start of treatment, followed by a period of stable or decelerated growth. The majority of the patients developed overweight to a greater extent than children without LCHAD deficiency. Sev作者: 指派 時間: 2025-3-23 17:24
Fabry Disease in Latin America: Data from the Fabry Registry,rsus 39% of women, respectively. Thirty-one percent of men and 22% of women in Latin America reported experiencing a significant cardiovascular, renal, or cerebrovascular event, at a mean age of 35 ± 12.6 years in men and 44 ± 12.3 years in women. Cardiovascular events were the most common type of i作者: obsession 時間: 2025-3-23 21:14
,Questioning the Pathogenic Role of the , p.Ala143Thr “Mutation” in Fabry Disease: Implications for ft ventricular hypertrophy and kidney biopsies in two males with renal failure and microalbuminuria lacked Gb-3 deposits. The literature data on this mutation as well as data collected in the Fabry Outcome Survey (FOS) database confirm these findings. The association of renal failure, stroke, and le作者: configuration 時間: 2025-3-24 02:05
A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria,d of a 30 % reduction in Phe, 9 % of those on placebo achieved this effect, compared with 44 % of the treated group after 6 weeks. Phe tolerance and variability were improved in treated participants in studies assessing those outcomes. No comparative studies assessed long-term outcomes including cog作者: bronchodilator 時間: 2025-3-24 06:08
Neonatal Bone Marrow Transplantation in MPS IIIA Mice,atterns of GFP. normal or MPS IIIA donor–derived cells were observed throughout the MPS IIIA mouse brain. We demonstrate that .-sulfoglucosamine sulfohydrolase (SGSH), the enzyme deficient in MPS IIIA, is produced and secreted in a manner proportional to that of other lysosomal enzymes. However, des作者: 精美食品 時間: 2025-3-24 07:20
Barriers to Transplantation in Adults with Inborn Errors of Metabolism,not had patients with IEM passed over on the transplant list but four of these eight had not referred a patient for transplantation. 4/13 centers had patients passed over on the transplant list and reasons cited included: (a) transplant team not comfortable with underlying disease, (b) cognitive imp作者: 分解 時間: 2025-3-24 13:22 作者: 充滿裝飾 時間: 2025-3-24 18:39
W. Terryn M.D.,R. Vanholder,D. Hemelsoet,B. P. Leroy,W. Van Biesen,G. De Schoenmakere,B. Wuyts,K. Cl作者: nullify 時間: 2025-3-24 20:46
Mary Lou Lindegren M.D.,Shanthi Krishnaswami MBBS, M.P.H.,Tyler Reimschisel M.D.,Christopher Fonnesb作者: Barter 時間: 2025-3-25 00:03 作者: 向外供接觸 時間: 2025-3-25 05:57
Elena Vanadia,K. Michael Gibson,Phillip L. Pearl,Emanuele Trapolino,Salvatore Mangano,Francesca Vana作者: 考博 時間: 2025-3-25 08:37 作者: 不理會 時間: 2025-3-25 14:04
rent at different levels. But the creating of transitions requires surplus-energy, and energy can be measured. A line of thinking is sketched, in which Parkinsonism is understood as the inability to create transitions, or, in other words, as lacking the ability to undo. At the end, one is left with 作者: 按時間順序 時間: 2025-3-25 19:08
Cosima Rhein,Julia Naumann,Christiane Mühle,Peter Zill,Mazda Adli,Ulrich Hegerl,Christoph Hiemke,Rolrent at different levels. But the creating of transitions requires surplus-energy, and energy can be measured. A line of thinking is sketched, in which Parkinsonism is understood as the inability to create transitions, or, in other words, as lacking the ability to undo. At the end, one is left with 作者: elastic 時間: 2025-3-25 22:17 作者: Oligarchy 時間: 2025-3-26 02:18
Pankaj Garg,Kevin Carpenter,Shanley Chong,John Christodoulou AMthe structural matrix proteins, matricellular proteins, and more complex ECM structures such as basement membranes. Adhesive proteins and their receptors are also discussed..978-3-642-43037-4978-3-642-36002-2Series ISSN 0887-3224 Series E-ISSN 2191-1959 作者: 無政府主義者 時間: 2025-3-26 05:05 作者: 搖曳的微光 時間: 2025-3-26 09:55
A. Brambilla,A. Pozzoli,F. Furlan,R. Parinithe structural matrix proteins, matricellular proteins, and more complex ECM structures such as basement membranes. Adhesive proteins and their receptors are also discussed..978-3-642-43037-4978-3-642-36002-2Series ISSN 0887-3224 Series E-ISSN 2191-1959 作者: Abutment 時間: 2025-3-26 12:44
Stefanie Kung,Mark Walters,Peter Claes,Jack Goldblatt,Peter Le Souef,Gareth Baynamthe structural matrix proteins, matricellular proteins, and more complex ECM structures such as basement membranes. Adhesive proteins and their receptors are also discussed..978-3-642-43037-4978-3-642-36002-2Series ISSN 0887-3224 Series E-ISSN 2191-1959 作者: 狂怒 時間: 2025-3-26 19:29
Graeme K Ambler,Matthew Hoare,Rebecca Brais,Ashley Shaw,Andrew Butler,Paul Flynn,Patrick Deegan,Willthe structural matrix proteins, matricellular proteins, and more complex ECM structures such as basement membranes. Adhesive proteins and their receptors are also discussed..978-3-642-43037-4978-3-642-36002-2Series ISSN 0887-3224 Series E-ISSN 2191-1959 作者: Confess 時間: 2025-3-26 22:29
Paul de Laat M.D.,Saskia Koene,Lambert P. W. J. vd Heuvel,Richard J. T. Rodenburg,Mirian C. H. Janssthe structural matrix proteins, matricellular proteins, and more complex ECM structures such as basement membranes. Adhesive proteins and their receptors are also discussed..978-3-642-43037-4978-3-642-36002-2Series ISSN 0887-3224 Series E-ISSN 2191-1959 作者: 丑惡 時間: 2025-3-27 03:33 作者: 一個攪動不安 時間: 2025-3-27 08:13
Daniel Palanca,Angels Garcia-Cazorla,Jessica Ortiz,Cristina Jou,Victoria Cusí,Mariona Su?ol,Teresa Tthe structural matrix proteins, matricellular proteins, and more complex ECM structures such as basement membranes. Adhesive proteins and their receptors are also discussed..978-3-642-43037-4978-3-642-36002-2Series ISSN 0887-3224 Series E-ISSN 2191-1959 作者: 蛙鳴聲 時間: 2025-3-27 09:28
Moin Vera,Thomas Lester,Bin Zhao,Pascale Tiger,Scott Clarke,Brigette L. Tippin,Merry B. Passage,Stevthe structural matrix proteins, matricellular proteins, and more complex ECM structures such as basement membranes. Adhesive proteins and their receptors are also discussed..978-3-642-43037-4978-3-642-36002-2Series ISSN 0887-3224 Series E-ISSN 2191-1959 作者: BOOM 時間: 2025-3-27 15:41
T. Litwin MD, PhD,G. Gromadzka PhD,J. Samochowiec MD, PhD,A. Grzywacz PhD,A. Cz?onkowski MD, PhD,A. the structural matrix proteins, matricellular proteins, and more complex ECM structures such as basement membranes. Adhesive proteins and their receptors are also discussed..978-3-642-43037-4978-3-642-36002-2Series ISSN 0887-3224 Series E-ISSN 2191-1959 作者: Chipmunk 時間: 2025-3-27 19:56
C. Bieneck Haglind,M. Halldin Stenlid,S. Ask,J. Alm,A. Nemeth,Uv. D?beln,A. Nordenstr?mthe structural matrix proteins, matricellular proteins, and more complex ECM structures such as basement membranes. Adhesive proteins and their receptors are also discussed..978-3-642-43037-4978-3-642-36002-2Series ISSN 0887-3224 Series E-ISSN 2191-1959 作者: 高度 時間: 2025-3-28 01:35
Johannes Zschocke,K Michael Gibson,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: Occupation 時間: 2025-3-28 04:26
JIMD Reportshttp://image.papertrans.cn/j/image/500046.jpg作者: Banquet 時間: 2025-3-28 09:44
Book 2013JIMD 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: 胡言亂語 時間: 2025-3-28 13:58 作者: 未開化 時間: 2025-3-28 14:41 作者: Accede 時間: 2025-3-28 22:08 作者: configuration 時間: 2025-3-29 00:02
cs 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: 六個才偏離 時間: 2025-3-29 03:26
Cosima Rhein,Julia Naumann,Christiane Mühle,Peter Zill,Mazda Adli,Ulrich Hegerl,Christoph Hiemke,Rolcs 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: Alcove 時間: 2025-3-29 07:34
Waseem Fathalla,Elamin AhmedECM.Includes supplementary material: .The evolution of single cells into multicellular organisms was mediated, in large part, by the extracellular matrix. The proteins and glycoconjugates that make up the extracellular matrix provide structural support to cellular complexes, facilitate cell adhesion作者: 協(xié)定 時間: 2025-3-29 14:15
Pankaj Garg,Kevin Carpenter,Shanley Chong,John Christodoulou AMECM.Includes supplementary material: .The evolution of single cells into multicellular organisms was mediated, in large part, by the extracellular matrix. The proteins and glycoconjugates that make up the extracellular matrix provide structural support to cellular complexes, facilitate cell adhesion作者: 怎樣才咆哮 時間: 2025-3-29 15:47
M. Dercksen,A. C. Crutchley,E. M. Honey,M. M. Lippert,G. Matthijs,L. J. Mienie,H. C. Schuman,B. C. VECM.Includes supplementary material: .The evolution of single cells into multicellular organisms was mediated, in large part, by the extracellular matrix. The proteins and glycoconjugates that make up the extracellular matrix provide structural support to cellular complexes, facilitate cell adhesion作者: Maximizer 時間: 2025-3-29 23:28
A. Brambilla,A. Pozzoli,F. Furlan,R. PariniECM.Includes supplementary material: .The evolution of single cells into multicellular organisms was mediated, in large part, by the extracellular matrix. The proteins and glycoconjugates that make up the extracellular matrix provide structural support to cellular complexes, facilitate cell adhesion作者: 發(fā)生 時間: 2025-3-30 03:19
Stefanie Kung,Mark Walters,Peter Claes,Jack Goldblatt,Peter Le Souef,Gareth BaynamECM.Includes supplementary material: .The evolution of single cells into multicellular organisms was mediated, in large part, by the extracellular matrix. The proteins and glycoconjugates that make up the extracellular matrix provide structural support to cellular complexes, facilitate cell adhesion作者: 談判 時間: 2025-3-30 07:44 作者: AIL 時間: 2025-3-30 11:11 作者: nocturia 時間: 2025-3-30 16:25
Gabor E. Linthorst M.D., Ph.D.,Alessandro P. Burlina,Franco Cecchi,Timothy M. Cox,Janice M. FletcherECM.Includes supplementary material: .The evolution of single cells into multicellular organisms was mediated, in large part, by the extracellular matrix. The proteins and glycoconjugates that make up the extracellular matrix provide structural support to cellular complexes, facilitate cell adhesion作者: 犬儒主義者 時間: 2025-3-30 17:45
Daniel Palanca,Angels Garcia-Cazorla,Jessica Ortiz,Cristina Jou,Victoria Cusí,Mariona Su?ol,Teresa TECM.Includes supplementary material: .The evolution of single cells into multicellular organisms was mediated, in large part, by the extracellular matrix. The proteins and glycoconjugates that make up the extracellular matrix provide structural support to cellular complexes, facilitate cell adhesion作者: wangle 時間: 2025-3-30 22:16 作者: 沙草紙 時間: 2025-3-31 02:32
T. Litwin MD, PhD,G. Gromadzka PhD,J. Samochowiec MD, PhD,A. Grzywacz PhD,A. Cz?onkowski MD, PhD,A. ECM.Includes supplementary material: .The evolution of single cells into multicellular organisms was mediated, in large part, by the extracellular matrix. The proteins and glycoconjugates that make up the extracellular matrix provide structural support to cellular complexes, facilitate cell adhesion作者: gregarious 時間: 2025-3-31 07:42 作者: Demonstrate 時間: 2025-3-31 12:50 作者: Gnrh670 時間: 2025-3-31 17:26
The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE,nagement of such patients...: Case – review study of patients diagnosed with infantile Pompe disease and literature search...: We identified five cases of infantile Pompe disease. The first was diagnosed by muscle biopsy; all others were diagnosed by enzyme assay on peripheral blood lymphocytes or d作者: 奇思怪想 時間: 2025-3-31 18:06 作者: 新字 時間: 2025-3-31 23:34 作者: 泛濫 時間: 2025-4-1 05:19
Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogec episodes during continuous nocturnal gastric drip-feeding (CNGDF) administered by nasogastric tube. The episodes of hypoglycemia were not related to pump failure or human errors or wrong position of the tube in the gastrointestinal tract. Hyperinsulinism was also considered in this patient but it 作者: 音的強弱 時間: 2025-4-1 09:32 作者: 消毒 時間: 2025-4-1 13:14
Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease, acid lipase, manifestations of which include chronic liver disease and early atherosclerosis. Although normally presenting in childhood, severity is variable and the condition can occasionally remain undetected until middle age. Typical presentation is with asymptomatic hepatosplenomegaly and hyper作者: Panther 時間: 2025-4-1 15:23
Inheritance of the m.3243A>G mutation,hild relations and 82 intersibling relations to investigate its transmission. We found a significant correlation between mother and child heteroplasmy levels (. = 0.679, . < 0.001). In mothers with a heteroplasmy level of below 25% we found 30% offspring without detectable mutation, while in mothers作者: Adrenal-Glands 時間: 2025-4-1 21:25
Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Foly reduced their agalsidase beta dose, and many of these switched to agalsidase alfa (Replagal Shire HGT). The clinical consequences of this period of drug shortage need to be further evaluated. A gradual increase of agalsidase beta supply is now expected. This implies that patients could resume or e作者: CRANK 時間: 2025-4-2 00:49
,-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period,senting with failure to thrive, hypotonia, pancytopaenia, HUS symptoms (microangiopathic haemolytic anaemia and thrombocytopaenia with signs of renal involvement) and fatal evolution. An underlying cobalamin disorder was diagnosed after a bone marrow examination revealed megaloblastic changes associ
