標(biāo)題: Titlebook: JIMD Reports, Volume 19; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men [打印本頁] 作者: Hazardous 時間: 2025-3-21 19:28
書目名稱JIMD Reports, Volume 19影響因子(影響力)
作者: Fecundity 時間: 2025-3-22 00:13 作者: 邪惡的你 時間: 2025-3-22 01:51
Yin-Hsiu Chien,Jennifer L. Goldstein,Wuh-Liang Hwu,P. Brian Smith,Ni-Chung Lee,Shu-Chuan Chiang,Advi of 1989. It was the first meeting of its kind and was convened as a forum to review and discuss the phylogeny of some of the cell biological functions that underlie nervous system function, such matters as intercellular communication in diverse, lower organisms, and the electrical excitability of p作者: 潰爛 時間: 2025-3-22 05:08
Mary Ellen Lynch,Nancy L. Potter,Claire D. Coles,Judith L. Fridovich-Keilar space. They are found throughout the animal kingdom in virtually all tissues, including the nervous system where they form electrical synapses. Where gap junctions occur, the adjacent cell membranes are in close apposition, with protein channels spanning a 2–4 nm intercellular space. The junction作者: Spartan 時間: 2025-3-22 08:57 作者: 大方一點 時間: 2025-3-22 14:57
Pankaj Prasun,Sarah Young,Gajja Salomons,Andrea Werneke,Yong-hui Jiang,Eduard Struys,Mikell Paige,Ma complex metabolic disorder in which both genetic and environmental factors play roles in the etiology. Advances in genetic analyses brought tremendous successes in identifying genetic components of common T2D and monogenic form of diabetes such as maturity-onset diabetes of the young (MODY). Large-作者: 處理 時間: 2025-3-22 18:52 作者: 放逐某人 時間: 2025-3-22 21:35
Evelina Maines,Grazia Morandi,Francesca Olivieri,Marta Camilot,Paolo Cavarzere,Rossella Gaudino,Franmmon and complex disease, and filaggrin gene (.) was identified as a strong genetic component. Numerous variations of . were identified and European and Asian patients harbor each distinct mutation profiles. Excess non-synonymous variants over synonymous variants of . in general populations indicate作者: 沉積物 時間: 2025-3-23 01:46
A De Novo Variant in Galactose-1-P Uridylyltransferase (,) Leading to Classic Galactosemia,he middle enzyme in the Leloir pathway of galactose metabolism. Patients with CG carry pathogenic loss-of-function mutations in both of their . alleles; the parents of patients are considered obligate carriers. We report here a first exception to that rule – a . . variant in a patient with classic g作者: bile648 時間: 2025-3-23 07:51 作者: 書法 時間: 2025-3-23 11:54 作者: 虛弱 時間: 2025-3-23 15:17 作者: esoteric 時間: 2025-3-23 19:01 作者: vitrectomy 時間: 2025-3-24 01:02 作者: 斗志 時間: 2025-3-24 02:29
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Here fatal outcome if untreated. HT1 results from a deficiency of the last enzyme of tyrosine catabolism, fumarylacetoacetate hydrolase (FAH). Biochemical findings include elevated succinylacetone in blood and urine; elevated plasma concentrations of tyrosine, methionine and phenylalanine; and elevated 作者: 刺激 時間: 2025-3-24 08:46
Pathologic Variants of the Mitochondrial Phosphate Carrier ,: Two New Patients and Expansion of thethe mitochondrial membrane, which is required in the final step of oxidative phosphorylation. The literature described two affected sibships with variants in .; all cases had skeletal myopathy and cardiomyopathy (OMIM 610773). We report here two new patients who had neonatal cardiomyopathy; one of w作者: gout109 時間: 2025-3-24 14:06 作者: Trochlea 時間: 2025-3-24 17:08 作者: 確定方向 時間: 2025-3-24 21:58
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India,s fructose challenge test or expensive molecular genetic analysis. Therefore, worldwide there has been a trend towards finding “common mutations” in distinct ethnic groups to simplify the process of diagnosis. The nonspecific presentation of the disease often leads to diagnostic confusion with other作者: 文字 時間: 2025-3-25 01:26
Leigh Syndrome Caused by the ,-, m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Denstantly expanding. Leigh syndrome (LS) has been reported to be caused by the m.13513G>A mutation in the ND5 subunit of complex I (.-. m.13513G>A). We present a case of a 12-month-old infant initially diagnosed with tachyarrhythmia requiring defibrillation, subsequent presentation with hypertension 作者: 啞劇 時間: 2025-3-25 03:55 作者: 染色體 時間: 2025-3-25 10:58 作者: refine 時間: 2025-3-25 14:04 作者: Concerto 時間: 2025-3-25 18:34 作者: duplicate 時間: 2025-3-25 23:04 作者: Implicit 時間: 2025-3-26 02:28 作者: Countermand 時間: 2025-3-26 04:22 作者: 不發(fā)音 時間: 2025-3-26 12:23 作者: stroke 時間: 2025-3-26 16:21
JIMD Reportshttp://image.papertrans.cn/j/image/500057.jpg作者: 難理解 時間: 2025-3-26 20:39 作者: 斗志 時間: 2025-3-26 23:51 作者: 制度 時間: 2025-3-27 02:51 作者: LIKEN 時間: 2025-3-27 07:09 作者: xanthelasma 時間: 2025-3-27 11:29
A De Novo Variant in Galactose-1-P Uridylyltransferase (,) Leading to Classic Galactosemia, both parents confirmed the expected degrees of relationship in the trio as well as inheritance of a common c.563A>G (p.Q188R) . mutation from the mother. This result demonstrates that not all pathogenic . mutations are inherited and raises concern that . may have a higher new mutation rate than previously believed.作者: neutrophils 時間: 2025-3-27 16:35 作者: 燈絲 時間: 2025-3-27 21:37
Pathologic Variants of the Mitochondrial Phosphate Carrier ,: Two New Patients and Expansion of theinsCAGATAC (p.Gly296_Ser300delinsGlnIlePro). Protein structure analysis indicated that both variants are likely to be pathogenic. Sequencing of . should be considered in patients with isolated cardiomyopathy, even those without generalized skeletal myopathy or lactic acidosis.作者: CANDY 時間: 2025-3-28 00:24
Leigh Syndrome Caused by the ,-, m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Demia due to renal sodium loss and inappropriate ADH secretion and hypertension can be features of this entity in addition to the previously reported cardiomyopathy and WPW-like conduction pattern and that they present additional challenges in diagnosis and management.作者: 煩憂 時間: 2025-3-28 03:28
,A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developm of urine, plasma, and cerebrospinal fluid (CSF) using reversed-phase HPLC, combined with electrospray tandem mass spectrometry. We report a first Korean female case with β-ureidopropionase deficiency.作者: right-atrium 時間: 2025-3-28 06:47 作者: 缺乏 時間: 2025-3-28 10:59 作者: Impugn 時間: 2025-3-28 17:25 作者: staging 時間: 2025-3-28 21:51
Mary Ellen Lynch,Nancy L. Potter,Claire D. Coles,Judith L. Fridovich-Keile of molecules with molecular weights up to about 1500, although the molecular weight cut-off depends on the shape and charge of the molecule involved, and upon the state of the channel itself. In the Arthropods, the channel is somewhat larger than in the other phyla, giving the upper size range quo作者: acquisition 時間: 2025-3-28 23:43 作者: medieval 時間: 2025-3-29 04:59
Pankaj Prasun,Sarah Young,Gajja Salomons,Andrea Werneke,Yong-hui Jiang,Eduard Struys,Mikell Paige,Maly <15% of MODY patients in Japan. More than 50 years ago, Neel made two notions on genetics of T2D: one is calling T2D as geneticist’s nightmare and the other is thrifty genotype hypothesis. These notions are challenged, partly solved, with the modern genetic advances and are focused in this chapte作者: Ingest 時間: 2025-3-29 10:42 作者: 賄賂 時間: 2025-3-29 12:50 作者: Verify 時間: 2025-3-29 19:15 作者: chronicle 時間: 2025-3-29 20:58
Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease,eating disorder. However, traditional eating disorder symptoms (e.g., binging, purging, fasting, etc.) were less prevalent in the GSD sample compared to population norms (.?=??6.45, .?
作者: Medicaid 時間: 2025-3-30 00:49
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literatuort stature. Two GH provocative tests revealed GHD. The patient started rhGH therapy and a controlled-protein diet initially with supplementation of oral arginine and then of citrulline. At 3-year follow-up, no significant increase in growth velocity and in insulin-like growth factor-1 (IGF-1) level作者: 臆斷 時間: 2025-3-30 04:36
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Heree to establish efficient prenatal and carrier testing to facilitate an early detection of the disease. Here we describe the 95 mutations reported so far in HT1 with special emphasis on their geographical and ethnic distributions. Such information should enable the establishment of a preferential scr作者: Biomarker 時間: 2025-3-30 08:33
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset of clinical symptoms (CLIN-IOPD) were included for comparison. Glc. concentrations in dried urine samples on filter paper were determined using tandem mass spectrometry...: Baseline Glc. concentrations were at or above the 90th centile of the age-matched reference range for the NBS-IOPD cohort. The作者: 雪白 時間: 2025-3-30 15:53 作者: 喃喃訴苦 時間: 2025-3-30 18:48 作者: lanugo 時間: 2025-3-30 23:14
