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排序方式: 共有244条查询结果,搜索用时 31 毫秒
21.
Joachim Greter Bengt Hagberg Göran Steen Ulla Söderhjelm 《European journal of pediatrics》1978,129(4):231-238
Choreoathetosis, spastic parapareses, dementia and optic atrophy were the main clinical features in a sibship with progressive encephalopathy of late onset. The urine contained constantly elevated amounts of 3-methylglutaric and 3-methylglutaconic acids. The identity of these metabolites was confirmed by synthesis and mass spectrometry. On leucine loading, the excretion of the metabolites was elevated. 相似文献
22.
Kumta NB 《Indian journal of pediatrics》2005,72(4):325-332
The inborn errors of metabolism (IEM) constitute a diverse heterogeneous group of disorders with protean clinical manifestations
presenting mainly in the pediatric population. Though individually rare, together they constitute a significant percentage
of children seen in genetic and neurology clinics. This review focuses on selected IEMs and highlights those seen in the neonatal
period. Data from Indian centers are presented. It also emphasizes principles of management in these difficult disorders in
the context of a developing country 相似文献
23.
心肌致密化不全是一种罕见的因胚胎发生时正常的心内膜心肌发育停滞所致的心肌病。临床表现各异,可无症状,也可表现为充血性心力衰竭,心律失常和系统性血栓栓塞等。超声心动图检查是诊断的首选。本病预后不同,早期诊断和治疗有助于延长患者的生命。 相似文献
24.
Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. Defects in this enzyme cause increased level of the cholesterol precursor desmosterol while disrupting development of cholesterol, impacting embryogenesis. A total of 9 cases of desmosterolosis have been reported to date. We report a 20-month-old male from consanguineous parents with multiple congenital anomalies including corpus callosum hypoplasia, facial dysmorphism, cleft palate, pectus deformity, short and wide neck and distal contractures. On analysis of the regions of homozygosity found by microarray, we identified DHCR24 as a candidate gene. Sterol quantitation showed a desmosterol level of 162 μg/mL (nl: 0.82 ± 0.48). Genetic testing confirmed the diagnosis with a homozygous likely pathogenic mutation (p.Glu191Lys) in the DHCR24 gene. Our case expands the known diagnostic spectrum for Desmosterolosis. We suggest considering Desmosterolosis in the differential diagnosis of patients who present with concurrent agenesis of the corpus callosum with white matter atrophy and ventriculomegaly, retromicrognathia with or without cleft palate, hand contractures, and delay of growth and development. Children of consanguineous mattings may be at higher risk for rare recessive disorders and testing for cholesterol synthesis defect should be a consideration for affected children. Initial evaluation can be performed using sterol quantitation, followed by genetic testing. 相似文献
25.
OBJECTIVE: Plasma ammonia measurement is greatly influenced by pre-analytical conditions, which may lead to false positives. We wanted to evaluate the prevalence and clinical impact of plasma ammonia false positives in a pediatric population. DESIGN AND METHODS: Over a 28-month period, charts of patients with elevated ammonemia were retrospectively reviewed to identify false positives defined as elevated concentrations that subsequently normalized without plausible explanation for the elevations. RESULTS: 1880 Ammonia measurements were available in 479 patients. Elevated results that subsequently normalized were found in 86 patients. Forty-one (48%) of these patients had most likely falsely elevated ammonemia. Additional blood sampling and laboratory testing were the most frequent consequences of false positives. CONCLUSION: There is a high proportion of false positives among elevated plasma ammonia measurements. Capillary samples and delay between sampling and centrifugation are possible contributing factors. Clinical consequences of false positives were most often limited. 相似文献
26.
目的探讨室间隔缺损(VSD)介入封堵治疗(国产封堵器)的治疗效果,并与外科手术方法进行比较。方法收集符合单一左向右分流VSD 60例,应用国产封堵器介入治疗,研究其可行性及早中期疗效,并与外科手术组比较在疗效、费用、并发症、输血量、住院时间等方面的差异。结果两组手术成功率均为100%,介入封堵组均未输血,外科手术组均行输血治疗(P〈0.01);术后住院时间介入封堵组少于外科手术组(P〈0.01);并发症介入封堵组少于外科手术组(P〈0.01);治疗费用两组比较差异无统计学意义(P〉0.05)。结论应用国产封堵器介入封堵治疗单一VSD操作简单、安全,损伤小,成功率高,早中期疗效满意,与外科手术比较不需输血,住院时间短,并发症少,治疗费用相当。 相似文献
27.
Efraim H. Rosenberg Eduard A. Struys Keith Hyland Barbara Plecko Paula J. Waters Saadet Mercimek-Mahmutoglu Sylvia Stockler-Ipsiroglu Renata C. Gallagher Gunter Scharer Johan L.K. Van Hove Cornelis Jakobs Gajja S. Salomons 《Molecular genetics and metabolism》2009,97(4):312-314
This study describes the use of cerebral spinal fluid (CSF) and/or urine as source of DNA for mutation analysis combined with multiple displacement amplification. The findings illustrate the opportunities and pitfalls of these methods in the search for identification of the pathogenic mutations in the case that only scarce material is available such as CSF. 相似文献
28.
Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman 总被引:1,自引:0,他引:1
We reviewed the clinical profile of our neonates diagnosed to have inborn errors of metabolism (IEM) by Tandem Mass Spectrometry (TMS) over a seven years period, and compared the results with published reports. We also attempted to evaluate various clinical situations wherein the screening test would yield a high pick up rate. Among the 166 neonates studied (10 aged 1 day, 79 aged 2-7 days and 77 aged 8-28 days), significant abnormalities on TMS suggestive of IEM were detected in 38 babies (23%), most common diseases diagnosed were maple syrup urine disease (10 neonates), propionic acidemia (8 neonates), urea cycle diseases (6 neonates) and isovaleric acidemia (4 neonates). The detection incidence was calculated to be one positive case out of every 4 to 5 babies tested. A high prevalence of parental consanguinity and high level of positive family history of affected siblings were the highlights of this study. The major clinical situations where testing was helpful were (a) unexplained acute neonatal encephalopathy, (b) positive family history of known or suspected IEM and (c) new born presenting with abnormal serum biochemistry suggestive of IEM. 相似文献
29.
Cystinuria is a rare hereditary disease resulting in recurrent stone formation and the need for repeated invasive interventions.
So far, two responsible genes have been identified which encode the two transporters, rBAT and b0,+AT forming a heterodimer to transport cystine in proximal tubular cells (PTC) and whose defect results in increased excretion
of cystine. A human cell line mimicing the phenotype of cystinuria in vitro is yet to be developed. Human kidney (HK)-2 is
a PTC line derived from normal HK. After determining the presence of rBAT gene by RT-PCR and Western blot analysis, radioactively
labeled cystine (S35) was used to evaluate the functional presence of the amino acid transport in HK-2 cells when cultured in vitro. To achieve
a cystinuria type I phenotype in HK-2 cells, the rBAT gene was silenced using antisense oligonucleotides complimentary to
human rBAT mRNA. The reduced transport activity of cystine was then determined by radiolabeled cystine uptake measurements.
RT-PCR and Western blot confirmed the expression of the rBAT gene in HK-2 cells. Considerable transport of the radio labeled
cystine was observed in HK-2 cells and was linearly dependent on the incubation time with the amino acid. The cystine transport
in rBAT knockdown cells after incubation with antisense oligonucleotides was significantly lower compared to control (0.76
vs. 0.98%; P = 0.0008), proving a transient knock-down of the rBAT gene. This study demonstrates the presence of the b0,+ amino acid transport system in human proximal tubular HK-2 cells when cultured in vitro. Inhibition of this transport system
is possible by using antisense technology. A permanent inhibition of the cystine transport, based on our model, would be useful
for the development and evaluation gene therapeutic approaches.
Gunnar Wendt-Nordahl, Sreedhar Sagi contributed equally to this work. 相似文献
30.
Ana Isabel Martínez Isabel Prez-Arellano Satu Pekkala Beln Barcelona Javier Cervera 《Molecular genetics and metabolism》2010,101(4):311-323
Carbamoyl phosphate synthetase 1 (CPS1) plays a paramount role in liver ureagenesis since it catalyzes the first and rate-limiting step of the urea cycle, the major pathway for nitrogen disposal in humans. CPS1 deficiency (CPS1D) is an autosomal recessive inborn error which leads to hyperammonemia due to mutations in the CPS1 gene, or is caused secondarily by lack of its allosteric activator NAG.Proteolytic, immunological and structural data indicate that human CPS1 resembles Escherichia coli CPS in structure, and a 3D model of CPS1 has been presented for elucidating the pathogenic role of missense mutations. Recent availability of CPS1 expression systems also can provide valuable tools for structure–function analysis and pathogenicity-testing of mutations in CPS1. In this paper, we provide a comprehensive compilation of clinical CPS1 mutations, and discuss how structural knowledge of CPS enzymes in combination with in vitro analyses can be a useful tool for diagnosis of CPS1D. 相似文献