派博傳思國(guó)際中心

標(biāo)題: Titlebook: JIMD Reports, Volume 24; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men [打印本頁]

作者: Thoracic 時(shí)間: 2025-3-21 19:05
書目名稱JIMD Reports, Volume 24影響因子(影響力)

書目名稱JIMD Reports, Volume 24影響因子(影響力)學(xué)科排名

書目名稱JIMD Reports, Volume 24網(wǎng)絡(luò)公開度

書目名稱JIMD Reports, Volume 24網(wǎng)絡(luò)公開度學(xué)科排名

書目名稱JIMD Reports, Volume 24被引頻次

書目名稱JIMD Reports, Volume 24被引頻次學(xué)科排名

書目名稱JIMD Reports, Volume 24年度引用

書目名稱JIMD Reports, Volume 24年度引用學(xué)科排名

書目名稱JIMD Reports, Volume 24讀者反饋

書目名稱JIMD Reports, Volume 24讀者反饋學(xué)科排名

作者: notion 時(shí)間: 2025-3-21 22:21

作者: 怎樣才咆哮 時(shí)間: 2025-3-22 04:13

作者: 美學(xué) 時(shí)間: 2025-3-22 06:01
JIMD Reports, Volume 24978-3-662-48227-8Series ISSN 2192-8304 Series E-ISSN 2192-8312

作者: Extort 時(shí)間: 2025-3-22 10:56
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: Desert 時(shí)間: 2025-3-22 15:23
JIMD Reportshttp://image.papertrans.cn/j/image/500062.jpg

作者: GRUEL 時(shí)間: 2025-3-22 19:26
Book 2015JIMD 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: frozen-shoulder 時(shí)間: 2025-3-22 21:18

作者: indigenous 時(shí)間: 2025-3-23 02:42

作者: avulsion 時(shí)間: 2025-3-23 07:03

作者: beta-cells 時(shí)間: 2025-3-23 11:35
Ilya Gertsman,Bruce A. Barshop,Jan Panyard-Davis,Jon A. Gangoiti,William L. Nyhanhat this book might remain available. Several readers and in particular reviewers of the first edition remarked, in one way or the other, that they had questions concerning several of our OUf concepts, concepts, such as genotype, phenotype, ignorance, surprise, sUlprise, novelty, novelty, knowledge,

作者: Comedienne 時(shí)間: 2025-3-23 14:58
Birgitta Olsson,Trevor F Cox,Eftychia E Psarelli,Johan Szamosi,Andrew T Hughes,Anna M Milan,Anthony pleased that this book might remain available. Several readers and in particular reviewers of the first edition remarked, in one way or the other, that they had questions concerning several of our OUf concepts, concepts, such as genotype, phenotype, ignorance, surprise, sUlprise, novelty, novelty, knowledge,978-3-540-58044-7978-3-662-03624-2

作者: 成份 時(shí)間: 2025-3-23 21:15

作者: Seminar 時(shí)間: 2025-3-24 01:52

作者: 離開可分裂 時(shí)間: 2025-3-24 05:25
Craig M Keenan,Andrew J Preston,Hazel Sutherland,Peter J Wilson,Eftychia E Psarelli,Trevor F Cox,Lakhat this book might remain available. Several readers and in particular reviewers of the first edition remarked, in one way or the other, that they had questions concerning several of our OUf concepts, concepts, such as genotype, phenotype, ignorance, surprise, sUlprise, novelty, novelty, knowledge,

作者: 逢迎白雪 時(shí)間: 2025-3-24 07:36

作者: 支形吊燈 時(shí)間: 2025-3-24 11:53
Nicole T. Lawrence,Tayoot Chengsupanimit,Laurie M. Brown,David A. Weinsteines and pathways—termed ‘tumor systems objects’—but also comprises all components of action insofar that these components are oriented in terms of diverse cell types. The components of action are organized in communication acts. Communication within a biological system is closely linked to descriptiv

作者: 尊嚴(yán) 時(shí)間: 2025-3-24 16:18

作者: aerobic 時(shí)間: 2025-3-24 21:17

作者: spinal-stenosis 時(shí)間: 2025-3-25 02:16
Nicholas Brodszki,Maria Svensson,André B. P. van Kuilenburg,Judith Meijer,Lida Zoetekouw,Lennart Tru

作者: somnambulism 時(shí)間: 2025-3-25 03:41
A. Torres,S. A. Newton,B. Crompton,A. Borzutzky,E. J. Neufeld,L. Notarangelo,G. T. Berry

作者: 不規(guī)則的跳動(dòng) 時(shí)間: 2025-3-25 10:13
M. M. Vawter-Lee,B. E. Hallinan,T. A. Burrow,C. G. Spaeth,T. M. Arthur

作者: prick-test 時(shí)間: 2025-3-25 12:29

作者: antidote 時(shí)間: 2025-3-25 18:03
Matthias Zielonka,Nawal Makhseed,Nenad Blau,Markus Bettendorf,Georg Friedrich Hoffmann,Thomas Oplade

作者: 確保 時(shí)間: 2025-3-26 00:03
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identificatio termination codon (no stop). Nine of the mutations were previously unreported novel variants. Using computational approaches based on the 3D structure, these novel mutations are predicted to affect the activity of the protein complex through destabilisation of the individual protomer structure or t

作者: 雜役 時(shí)間: 2025-3-26 01:20
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria,of between 0.5 and 3.5?years. Urine HGA, plasma tyrosine levels, and plasma NTBC were then measured longitudinally at various doses. We found that tyrosine concentrations plateaued and did not reach significantly higher levels as NTBC doses were increased above 2?mg/day, while a significant drop in

作者: LAY 時(shí)間: 2025-3-26 06:34
Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyr(range 1.6–6.7)..Nitisinone decreased urinary excretion of HGA in a concentration-dependent manner, with a maximum effect seen at average nitisinone concentrations of 3?μmol/L. The association between nitisinone and tyrosine concentrations was less pronounced. Serum levels of HGA at Week 4 were belo

作者: Obvious 時(shí)間: 2025-3-26 10:02

作者: LEER 時(shí)間: 2025-3-26 13:47
Age-Related Deviation of Gait from Normality in Alkaptonuria, the deviation of a patient’s gait from a distributed definition of gait normality. Results showed that gait deviation roughly follows a sigmoid profile with minimal increase of gait deviations in a younger patient group and an abrupt large increase around the second half of the 4th decade of life.

作者: MAIM 時(shí)間: 2025-3-26 20:02
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice,al therapy for AKU, was able to completely prevent deposition of ochronotic pigment. However, although nitisinone has been shown to inhibit ochronotic deposition, whether it can also facilitate removal of existing pigment has not yet been examined. We describe here that midlife administration of nit

作者: 疲勞 時(shí)間: 2025-3-27 00:29
The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metacolour and likewise thought to be a polymer of undetermined size. It is important that detailed analysis be carried out to define more accurately this pigment. However, observations suggest it to be the same as the HGA-derived pigment, pyomelanin, produced by bacteria and containing both quinone and

作者: 拱形大橋 時(shí)間: 2025-3-27 01:32
Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Dim.3243A>G carriers with diabetes mellitus, cardiomyopathy, and renal abnormalities. After a 2-year follow-up, no significant correlation was found between the change in disease severity and the change in the concentration of GDF15 or between the GDF15 level at the first assessment and the change in

作者: phytochemicals 時(shí)間: 2025-3-27 05:45
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiencions in the . gene: c.729C>G (p.Asn243Lys) and c.746A>C (p.Tyr249Cys). HSCT was performed with an unrelated donor, resulting in prompt and sustained engraftment and complete donor chimerism. There was no further aggravation of the patient’s neurological symptoms at 21 months post HSCT, and appropria

作者: 樂意 時(shí)間: 2025-3-27 12:05
CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorptioher signs and symptoms of hereditary folate malabsorption even at relatively low CSF levels. Although difficult, early detection and diagnosis of cerebral folate deficiency are important because folinic acid at a pharmacologic dose may normalize outcome in PCFT gene defects, as well as bypass autoan

作者: Connotation 時(shí)間: 2025-3-27 15:03
A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy,onths after presentation, CSF (cerebrospinal fluid) protein and MRS lactate were persistently elevated, concerning for a neurodegenerative disorder. This led to testing for mitochondrial disease, followed by lysosomal and peroxisomal disorders. Very long-chain fatty acids were elevated. Identificati

作者: Dawdle 時(shí)間: 2025-3-27 18:08

作者: mosque 時(shí)間: 2025-3-27 22:34
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Dcause of persistent short stature, systematic endocrinological investigations were initiated. Insufficient growth-hormone release in a severe hypoglycemic episode after overnight fasting confirmed growth-hormone deficiency as a cause of short stature. In addition, central hypothyroidism was present.

作者: 洞穴 時(shí)間: 2025-3-28 02:39

作者: 比目魚 時(shí)間: 2025-3-28 07:47

作者: 鉆孔 時(shí)間: 2025-3-28 13:37

作者: SOB 時(shí)間: 2025-3-28 15:27

作者: Kinetic 時(shí)間: 2025-3-28 19:12
Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyr). Nitisinone decreases HGA in AKU, but the concentration–response relationship has not been previously reported...: To determine the relationship between serum concentrations of nitisinone and the effect on both HGA and tyrosine; secondly to determine steady-state pharmacokinetics of nitisinone in

作者: Aerate 時(shí)間: 2025-3-28 22:56
Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkerding trial for nitisinone treatment of AKU patients. We tested a panel of serum and urinary biomarkers reflecting extracellular matrix remodelling (ECMR) of cartilage, bone and connective tissue in SONIA 1 patients to identify non-invasive and diagnostic biomarkers of tissue turnover in AKU...: Fast

作者: multiply 時(shí)間: 2025-3-29 07:00

作者: VALID 時(shí)間: 2025-3-29 07:36
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice, in the catabolism of phenylalanine and tyrosine. Loss of HGD function prevents metabolism of homogentisic acid (HGA), leading to increased levels of plasma HGA and urinary excretion. Excess HGA becomes deposited in collagenous tissues and subsequently undergoes polymerisation, principally in the ca

作者: intertwine 時(shí)間: 2025-3-29 14:14
The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metaain pigment melanin in defining its biochemistry, the different types and function. However, analytical techniques to show these differences in vivo are still not readily available. NMR and IR spectroscopy are relatively insensitive and reveal only major structural differences. Techniques utilising

作者: 奴才 時(shí)間: 2025-3-29 17:09