標(biāo)題: Titlebook: JIMD Reports - Case and Research Reports, 2012/3; SSIEM Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherited [打印本頁(yè)] 作者: 分期 時(shí)間: 2025-3-21 18:19
書(shū)目名稱(chēng)JIMD Reports - Case and Research Reports, 2012/3影響因子(影響力)
書(shū)目名稱(chēng)JIMD Reports - Case and Research Reports, 2012/3影響因子(影響力)學(xué)科排名
書(shū)目名稱(chēng)JIMD Reports - Case and Research Reports, 2012/3網(wǎng)絡(luò)公開(kāi)度
書(shū)目名稱(chēng)JIMD Reports - Case and Research Reports, 2012/3網(wǎng)絡(luò)公開(kāi)度學(xué)科排名
書(shū)目名稱(chēng)JIMD Reports - Case and Research Reports, 2012/3被引頻次
書(shū)目名稱(chēng)JIMD Reports - Case and Research Reports, 2012/3被引頻次學(xué)科排名
書(shū)目名稱(chēng)JIMD Reports - Case and Research Reports, 2012/3年度引用
書(shū)目名稱(chēng)JIMD Reports - Case and Research Reports, 2012/3年度引用學(xué)科排名
書(shū)目名稱(chēng)JIMD Reports - Case and Research Reports, 2012/3讀者反饋
書(shū)目名稱(chēng)JIMD Reports - Case and Research Reports, 2012/3讀者反饋學(xué)科排名
作者: Lipoma 時(shí)間: 2025-3-21 21:21
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.978-3-642-28128-0978-3-642-28129-7Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: 消耗 時(shí)間: 2025-3-22 01:49 作者: 我不明白 時(shí)間: 2025-3-22 06:57 作者: Bmd955 時(shí)間: 2025-3-22 10:57
JIMD Reports - Case and Research Reports, 2012/3978-3-642-28129-7Series ISSN 2192-8304 Series E-ISSN 2192-8312 作者: strain 時(shí)間: 2025-3-22 14:47 作者: GROSS 時(shí)間: 2025-3-22 17:17 作者: Ceramic 時(shí)間: 2025-3-22 23:18 作者: cultivated 時(shí)間: 2025-3-23 02:28 作者: Gleason-score 時(shí)間: 2025-3-23 09:16 作者: hankering 時(shí)間: 2025-3-23 11:00
E Martins,A Marc?o,A Bandeira,H Fonseca,C Nogueira,L Vilarinhonever sets in, as conjectured by Harlow and Hayden.? .Motivated by the information loss paradox,? the author also investigates the possibility that “monster” configurations might exist, with an arbitrarily larg978-3-662-56915-3978-3-662-48270-4Series ISSN 2190-5053 Series E-ISSN 2190-5061 作者: nephritis 時(shí)間: 2025-3-23 14:04
Xiao-Tong Shi,Juan Cai,Yuan-Yu Wang,Wen-Jun Tu,Wei-Peng Wang,Li-Ming Gong,Dao-Wen Wang,Yin-Tao Ye,Sh作者: 不在灌木叢中 時(shí)間: 2025-3-23 21:38
Greet Noorda,Theo van Achterberg,Truus van der Hooft,Jan Smeitink,Lisette Schoonhoven,Baziel van Eng作者: giggle 時(shí)間: 2025-3-23 22:43 作者: badinage 時(shí)間: 2025-3-24 04:16 作者: 頭盔 時(shí)間: 2025-3-24 09:51
uld be implemented and finally exist in reality: a manifold of s- tem designers, SW engineers, solution consultants, test personnel, field tech- cians and service staff would have to deal with the underlying architecture, c- cepts and detailed procedures. Yet, I noticed in my roughly two decades of 作者: 改良 時(shí)間: 2025-3-24 12:06 作者: blight 時(shí)間: 2025-3-24 17:12
Hye-Sook Chang,Takako Shibata,Satoshi Arai,Chunhua Zhang,Akira Yabuki,Sawane Mitani,Takashi Higo,Kaz2) melting of slabs versus melting of thickened mafic crust. The mechanisms and rates of slab dehydration control the stability of garnet and amphibole in subduction zones. From what we know about early Archean greenstones, they are more altered than later ones, and thus they would appear to bring m作者: Processes 時(shí)間: 2025-3-24 20:35 作者: Peristalsis 時(shí)間: 2025-3-25 02:46 作者: 果仁 時(shí)間: 2025-3-25 05:35 作者: 匍匐前進(jìn) 時(shí)間: 2025-3-25 10:22
Andrea Mignarri,Claudia Vinciguerra,Antonio Giorgio,Sacha Ferdinandusse,Hans Waterham,Ronald Wandersct in “insensible” sweating responses from sweat glands/ducts at the folds: this defect could start with leakage of sweat from the glands/ducts, thereby not only providing an inflammatory milieu but also resulting in dry skin. As a next step, compensatory hyperhidrosis would occur preferentially in 作者: CHASE 時(shí)間: 2025-3-25 13:17 作者: DAMN 時(shí)間: 2025-3-25 18:01
Mei-Ying Liu,Tze-Tze Liu,Yang-Ling Yang,Ying-Chen Chang,Ya-Ling Fan,Shu-Fen Lee,Yu-Ting Teng,Szu-Hui the moistness of the stratum corneum and to regulate temperature. Disruption or dysfunction of these mechanisms impairs skin homeostasis and allows the invasion of pathogens from outside. Development of internal inflammation causes external barrier disruption in turn. This vicious cycle contributes作者: 解開(kāi) 時(shí)間: 2025-3-25 21:59 作者: 諂媚于人 時(shí)間: 2025-3-26 03:58 作者: 不透氣 時(shí)間: 2025-3-26 05:53 作者: 直覺(jué)沒(méi)有 時(shí)間: 2025-3-26 11:40
Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Dis作者: FLOAT 時(shí)間: 2025-3-26 13:34
Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutationed the amino acid change Thr259Ala (A775G). Based on crystallographic modeling, this change is predicted to be deleterious, as threonine 259 is positioned proximal to the HexA alpha subunit active site and helps to stabilize key residues therein. Accordingly, if individuals are screened for TSD in b作者: Folklore 時(shí)間: 2025-3-26 17:25
A Novel Mutation in , Resulting in Hepatic CPT Deficiency,utes to a hydrogen bond network with neighboring residues Cys304 and Met593 but does not participate in the catalysis and carnitine pocket. Its replacement by tryptophan induces steric hindrance with the side chain of Ile480 located in α-helix 12, affecting protein architecture and function. This hi作者: 充滿(mǎn)人 時(shí)間: 2025-3-26 21:47
Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome,low for infant growth, while preventing toxicity, is challenging, particularly for those women who no longer follow the PKU diet. Gastrostomy tube placement is an option to deliver medical formula to women who are unable to restart diet due to severe nausea or palatability issues..Here we discuss tw作者: 土坯 時(shí)間: 2025-3-27 04:13 作者: 偶像 時(shí)間: 2025-3-27 07:46 作者: Carcinoma 時(shí)間: 2025-3-27 10:22 作者: Frequency 時(shí)間: 2025-3-27 15:20
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations,defect. Sequence analysis of the PEX2 gene identified two heterozygous mutations. The clinical phenotype of our patient differs from previously reported ZSD patients with PEX2 gene mutations and suggests that genetic screening of PEX2 is warranted in children and adults with otherwise unexplained au作者: 刺耳的聲音 時(shí)間: 2025-3-27 21:46 作者: 蕁麻 時(shí)間: 2025-3-28 01:19
Mutation Profile of the , Gene in Chinese Methylmalonic Aciduria Patients,A and c.1084-10A>G), and one major deletion. Among the mutations identified, the c.1280G>A (15.5%), c.729_730insTT (10.7%), c.1106G>A (4.8%), c.1630_1631GG>TA (4.8%), and c.2080C>T (4.8%) accounted for 40% of the diseased alleles. The c.1280G>A and c.729_730insTT mutations were found to be the most 作者: intertwine 時(shí)間: 2025-3-28 05:02 作者: 演繹 時(shí)間: 2025-3-28 08:45 作者: MUT 時(shí)間: 2025-3-28 12:25 作者: investigate 時(shí)間: 2025-3-28 15:36
,Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss,l participation”, “l(fā)oss of personal identity”, “l(fā)oss of dreams and future” as well as “l(fā)ack of health care” and “coping and adjustment”...: In this first study on this theme, we developed a theory about patient’s losses related to mitochondrial disease. They experience a variety of problems in the p作者: painkillers 時(shí)間: 2025-3-28 21:51
The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy,atabase of >450,000 newborns tested in Minnesota since 2004. Proline concentrations (777 and 1,381 μmol/L) were above the 99 percentile (776 μmol/L) of the general population, and citrulline concentrations (4.5 and 4.9 μmol/L) only just above the 1 percentile (4.37 μmol/L). The proline/citrulline ra作者: critique 時(shí)間: 2025-3-29 01:52
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherit and genetic characteristics of individuals from these 11 families are presented. Plasma methionine and homocysteine concentrations were found to be moderately increased in all newborns, and molecular analysis revealed that they all were heterozygous for R264H mutation. Normal growth, development, a作者: Inflated 時(shí)間: 2025-3-29 04:39
Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abdisease range, newborn screening for VLCAD deficiency was in the end considered normal. The most important lesson learned is that acylcarnitine profiles from healthy newborns during catabolism and VLCAD-deficient patients can in certain cases not be distinguished by any means. With a known high inci作者: Bother 時(shí)間: 2025-3-29 10:35
Newborn Screening for Lysosomal Storage Disorders in Hungary,. Genetic confirmation was carried out for 120 samples with abnormal screening results after retesting, which identified three cases of GD, three cases of FD, nine cases of PD, and two cases with NPB. In some cases, we detected up to now unknown mutations – one in NPB and seven in PD – which raise q作者: Acumen 時(shí)間: 2025-3-29 12:22 作者: 方舟 時(shí)間: 2025-3-29 17:29
Monique Fontaine,Anne-Frédérique Dessein,Claire Douillard,Dries Dobbelaere,Michèle Brivet,Audrey Bousultants, test personnel, field tech- cians and service staff would have to deal with the underlying architecture, c- cepts and detailed procedures. Yet, I noticed in my roughly two decades of 978-3-7091-1715-6978-3-211-09440-2作者: indigenous 時(shí)間: 2025-3-29 22:47
ader with a fast and easy start. The concept and structure of the material compiled is p- sented, followed by some hints on how to make best use of it. Finally the status of standardization, on which this book is based, is described. 1. 1 Motivation Probably the main motivation for starting to draft作者: vascular 時(shí)間: 2025-3-30 02:24 作者: 向外供接觸 時(shí)間: 2025-3-30 07:15 作者: 喊叫 時(shí)間: 2025-3-30 08:26 作者: Congregate 時(shí)間: 2025-3-30 14:40 作者: 證明無(wú)罪 時(shí)間: 2025-3-30 20:18
Laura E. Laróvere,Silene M. Silvera Ruiz,Celia J. Angaroni,Raquel Dodelson de Kremerld.This book presents recent research on the evolution of artificial neural development, and searches for learning genes. It is fascinating to see how all biological cells share virtually the same traits, but humans have a decided edge over other species when it comes to intelligence. Although DNA d作者: 駕駛 時(shí)間: 2025-3-30 23:11 作者: 玉米 時(shí)間: 2025-3-31 03:36
Vikramajit Singhin skin barrier function. Primary cutaneous barrier function is maintained by several physiological factors, including proper skin permeability that is regulated by both the stratum corneum barrier and the tight junction barrier and innate immune response of secretion from both the skin and skin app作者: forebear 時(shí)間: 2025-3-31 08:49 作者: 得罪 時(shí)間: 2025-3-31 12:00 作者: neolith 時(shí)間: 2025-3-31 14:45 作者: INCH 時(shí)間: 2025-3-31 20:15
S. L. Austin,A. D. Proia,M. J. Spencer-Manzon,J. Butany,S. B. Wechsler,P. S. KishnaniGWASs) provide an unbiased method to identify the genetic factors of human diseases and phenotypes comprehensively. Although it is well known that loss-of-function mutations in . are the most significant genetic risk factor for AD, recent GWASs, immunochip analyses, and meta-analyses of GWASs have i作者: bisphosphonate 時(shí)間: 2025-4-1 00:44 作者: 罵人有污點(diǎn) 時(shí)間: 2025-4-1 04:46 作者: FEAS 時(shí)間: 2025-4-1 07:34 作者: FID 時(shí)間: 2025-4-1 10:38
E Martins,A Marc?o,A Bandeira,H Fonseca,C Nogueira,L Vilarinhoof the information loss problem and the firewall paradox.Pro.This thesis focuses on the recent firewall controversy surrounding evaporating black holes, and shows that in the best understood example concerning electrically charged black holes with a flat event horizon in anti-de Sitter (AdS) spaceti作者: 貧困 時(shí)間: 2025-4-1 15:41
Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutationse (TSD) carriers, irrespective of ethnic background. This is increasingly important, as the gene pool of those who identify as Ashkenazi Jewish is diversifying. Here we describe the analysis of a cohort of 4,325 individuals arising from large carrier screening programs and tested by the serum and/o作者: 香料 時(shí)間: 2025-4-1 19:31
A Novel Mutation in , Resulting in Hepatic CPT Deficiency,od, the patient developed a life-threatening episode (hypoketotic hypoglycemia, liver cytolysis, and hepatomegaly) evocative of a mitochondrial fatty acid oxidation disorder, and presented deficient fibroblast carnitine palmitoyltransferase 1 (CPT1) activity and homozygosity for the c.1783 C > T nuc作者: cancer 時(shí)間: 2025-4-1 23:41
Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome,anine (phe) acts as a teratogen to the developing fetus with consequences including intellectual disability, microcephaly, facial dysmorphism, growth retardation, and congenital heart disease. MPKU can be prevented if metabolic control is achieved by 8–10 weeks gestation. If control is not achieved,
