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LORENZO MAGGI FRANCO SALERNO CINZIA BRAGATO SIMONA SAREDI FLAVIA BLASEVICH ELIO MACCAGNANO BARBARA PASANISI CESARE DANESINO MARINA MORA LUCIA MORANDI 《Acta myologica》2013,32(2):85-90
The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings characterized by an unusual adult-onset Pompe disease including dysphagia and weakness of tongue, axial and limb-girdle muscles, in association with atypical globular inclusions in muscle fibres. Our study confirms the great clinical and histological variability of adult-onset Pompe disease and further supports the need of careful evaluation of bulbar function in patients affected by this pathology.Key words: Pompe disease, globular inclusions, bulbar symptomsGlycogen storage disease type II (Pompe disease or acid maltase deficiency) is a rare autosomal recessive muscular disorder characterized by deficiency of acidalfa glucosidase (GAA), determining accumulation of glycogen in the lysosomes, mainly in cardiac and skeletal muscle cells. Typical phenotypes of glycogenosis type II include the severe classic infantile form, characterized by severe muscle weakness and hypertrophic cardiomyopathy, almost invariably fatal by 12 months, a "non-classic" form presenting between 1 and 2 years of age and the lateonset form, presenting at any time after the age of 1 year, including juvenile and adult-onset subtypes, which are considered as part of a continuous clinical spectrum (1). In particular the adult-onset form presents with slowly progressive proximal lower limb and/or paraspinal muscle weakness, often followed by restrictive respiratory failure, which could be life-threatening, as it is in infants and children (2). However the clinical spectrum of adultonset form is wide, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome (2, 3). Furthermore clinical severity and disease progression is greatly variable.We report on a family with 3 siblings with an unusual adult-onset Pompe disease clinically characterized by weakness of bulbar, axial and limb-girdle muscles in association with atypical histopathological changes. 相似文献
33.
Improvement of supportive nursing care in cancer patients autografted with bone marrow and mobilized peripheral blood haematopoietic progenitors 总被引:1,自引:0,他引:1
MARIA GRAZIA GRECO RN MARINA BALBI RN LUCIA SARACINO RN MARCO MILANESI RN 《European journal of cancer care》1996,5(1):21-25
We report that in cancer patients a dramatic reduction in infection rate, days of isolation, oral mucositis and hospitalization due to high-dose chemotherapy is achievable by autografting with haematopoietic progenitor cells (CPCs) circulating in peripheral blood following cancer therapy with high-dose cyclophosphamide (HD-CTX) and administration of recombinant haematopoietic cytokines. Thirty patients (29 lymphomas, one breast cancer) were treated with total body irradiation and high-dose melphalan followed by either: (i) bone marrow transplant (Group A); (ii) bone marrow plus HD-CTX-mobilized CPC transplant (Group B); or (iii) bone marrow plus HD-CTX- and cytokine-mobilized CPC transplant (Group C). Nursing care load was remarkably higher in Group A patients compared to Group B and C patients, thus demonstrating clinical advantages of transplantation of HD-CTX- and cytokine-mobilized CPCs. 相似文献
34.
RUBEN SHTURMAN-LLSTEIN MARIA ALBA GRECO CARMEN MYRIE ELIZABETH K. GOLDMAN 《Acta paediatrica (Oslo, Norway : 1992)》1978,67(2):239-243
ABSTRACT. A premature baby presented with severe hydrops fetalis due to a multifocal angiomatous malformation of the liver. There were two other small vascular tumors: hemangioma of the skin and chorioangioma. Hydramnios and placental edema were also present. The association of severe hydrops fetalis and hydramnios with angiomatous malformation of the liver was not found in reviewing the literature. 相似文献
35.
C. POLITO L. GRECO S. F. TOTINO M. R. OPORTO A. LA MANNA C. G. STRANO R. DI TORO 《Acta paediatrica (Oslo, Norway : 1992)》1987,76(1):97-102
ABSTRACT. Statural growth was studied in 20 prepubertal children with chronic renal failure on conservative treatment followed-up 1.1 to 8.9 years (average 3.9). Five children reached end-stage renal failure during the follow-up period and underwent dialysis or transplantation. Most patients grew at a normal rate. During the observation period only 1 out of 20 children lost more than 0.5 height standard deviation score whereas 9 gained 0.5 to 3.1. A growth velocity above the 97th percentile for at least 1 year was observed in 6 patients. A normal growth rate and even catch-up growth is possible in children with chronic renal failure regardless of the degree of reduction of glomerular function. 相似文献
36.
VINCENZO SERRETTA GIOVANNI LO GRECO CARLO PAVONE MICHELE PAVONE-MACALUSO 《The Journal of urology》1998,159(4):1187-1191
Purpose
We asses the results of bladder preservation for infiltrating cancer. The potential for neoadjuvant chemotherapy followed by extensive transurethral resection and radiotherapy was evaluated in 40 patients with T2-T4a G2-G3 bladder carcinoma.Materials and Methods
From 1983 to 1995, 40 patients with bladder cancer underwent bladder sparing treatment, consisting of neoadjuvant chemotherapy, extensive transurethral resection and radiotherapy. Most patients had T3G3 cancer. A deep transurethral resection biopsy was performed before and after chemotherapy, and an extensive transurethral resection was repeated at the end of radiotherapy. Of the patients 30 received cisplatin and methotrexate and 10 also received vinblastine. Total dose of radiotherapy was 60 to 65 Gy. Recurrent superficial tumors were treated transurethrally. Radical cystectomy was considered for persistent or recurrent invasive disease.Results
Complete response occurred in 19 patients (47.5%) after chemotherapy, and in 8 patients after transurethral resection and radiotherapy (67.5%). Within 10 years 8 responding patients (30%) had local recurrences and 3 underwent cystectomy. Of the patients 14 (35%) are alive, including 13 with no evidence of disease (mean survival 65 months), 5 died of unrelated disease and 21 (52.5%) died of distant metastases (mean survival 28 months). Of the 21 patients 14 had residual tumor after radiotherapy, 3 presented with distant metastases after vesical infiltrating recurrence and 4 had distant metastases in the absence of locoregional recurrence. In 22 patients (55%) the bladder was salvaged. Patients with complete response to chemotherapy had a low risk for recurrent infiltrating tumors and metastases.Conclusions
Complete tumor control was maintained at 5 years in more than 50% of the patients treated conservatively. Bladder salvage is feasible in select patients. 相似文献37.
38.
M. GIORDANO E. BOLOGNESI S. D'ALFONSO M. LESSI P. ZAVATTARI G. ODERDA F. CLOT S. PERCOPO G. CASARI L. GRECO R. TOSI P. MOMIGLIANO-RICHIARDI 《Annals of human genetics》1999,63(3):207-215
Coeliac disease (CD) is a multigenic and multifactorial enteropathy triggered by gluten-composing proteins. A possible involvement of the intestinal Aminopeptidase N (APN) was investigated by an association analysis. SSCP analysis detected four variants at position 281, 378, 956 and 2957 (referred to no. g178535, GenBank) that were studied in 193 Italian CD families. The haplotypic combinations were determined from family segregation and pairwise linkage disequilibria (D'= D/Dmax ) between the polymorphic sites were calculated. Significant D' values ranged between 0.78 and 0.31. Association with CD was tested by TDT (Transmission Disequilibrium Test) utilizing as markers the nucleotide substitutions and their haplotypic combinations. No statistically significant transmission distortion to the probands or to their clinically silent sibs was observed. Our data exclude an involvement in CD of the tested markers and of further undetected variation in strong linkage disequilibrium (D'≅ 1) with them. The power of the test was not adequate to detect an association with an unknown polymorphism which is not in complete linkage disequilibrium with those analysed. 相似文献
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