Base de datos : MEDLINE
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[PMID]:28643719
[Au] Autor:Damarla N; Linga P; Goyal M; Tadisina SR; Reddy GS; Bommisetti H
[Ad] Dirección:Department of Ophthalmology, Apollo Institute of Medical Sciences and Research, Jubilee Hills, Hyderabad, Telangana, India.
[Ti] Título:Alkaptonuria: A case report.
[So] Fuente:Indian J Ophthalmol;65(6):518-521, 2017 Jun.
[Is] ISSN:1998-3689
[Cp] País de publicación:India
[La] Idioma:eng
[Ab] Resumen:Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ocular features in the retina is described.
[Mh] Términos MeSH primario: Alcaptonuria/complicaciones
Conjuntiva/patología
Córnea/patología
Oftalmopatías/etiología
Ocronosis/complicaciones
Retina/patología
Esclerótica/patología
[Mh] Términos MeSH secundario: Adulto
Alcaptonuria/diagnóstico
Diagnóstico Diferencial
Oftalmopatías/diagnóstico
Seres Humanos
Masculino
Ocronosis/diagnóstico
Tomografía de Coherencia Óptica/métodos
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Em] Mes de ingreso:1710
[Cu] Fecha actualización por clase:171012
[Lr] Fecha última revisión:171012
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:170624
[St] Status:MEDLINE
[do] DOI:10.4103/ijo.IJO_337_16


  2 / 611 MEDLINE  
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[PMID]:28240677
[Au] Autor:Bozkurt S; Aktekin L; Ugurlu FG; Balci S; Sezer N; Akkus S
[Ad] Dirección:From the Atatürk Educational and Research Hospital, Physical Medicine and Rehabilitation Clinic (S. Bozkurt); and Physical Medicine and Rehabilitation Department (LA, FGU, NS, SA) and Pathology Department (S. Balci), Yildirim Beyazit University, Ankara, Turkey.
[Ti] Título:An Unusual Cause of Myelopathy: Ochronotic Spondyloarthropathy With Positive HLA B27.
[So] Fuente:Am J Phys Med Rehabil;96(11):e206-e209, 2017 Nov.
[Is] ISSN:1537-7385
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:Ochronosis is a late developing complication of alkaptonuria, a black brownish pigment in the fibrous and cartilaginous tissues. Although most previous studies reported alkaptonuria and back pain due to ochronosis, thoracic myelopathy is an extremely rare complication. In this report, a paraparetic patient who has ochronotic spondiloarthropathy with the presence of HLA B27 antigen is described. He had low back and leg pain and morning stiffness for 5 yrs. Last year, these were followed by tingling, numbness, and weakness the in lower extremities and he was operated on with preliminary diagnosis of prolapsed disc herniation and cord compression. Surgery is suggested for disc herniations related to ochronotic spondyloarthropathy if it is necessary or neurologic symptoms are present. However, his pain and weakness have partially recovered after the operation. After medical and physical treatment, he showed clinically significant improvements. This case report demonstrates that the management of ochronosis needs a multidisciplinary approach with physiologic, neurologic, and psychologic effects and proper treatment may significantly improve functional outcomes in these patients.
[Mh] Términos MeSH primario: Antígeno HLA-B27/sangre
Ocronosis/complicaciones
Enfermedades de la Médula Espinal/etiología
Espondiloartropatías/complicaciones
Vértebras Torácicas
[Mh] Términos MeSH secundario: Seres Humanos
Masculino
Mediana Edad
Ocronosis/inmunología
Paraparesia/complicaciones
Paraparesia/inmunología
Enfermedades de la Médula Espinal/inmunología
Espondiloartropatías/inmunología
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (HLA-B27 Antigen)
[Em] Mes de ingreso:1710
[Cu] Fecha actualización por clase:171030
[Lr] Fecha última revisión:171030
[Sb] Subgrupo de revista:AIM; IM
[Da] Fecha de ingreso para procesamiento:170228
[St] Status:MEDLINE
[do] DOI:10.1097/PHM.0000000000000727


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[PMID]:28126186
[Au] Autor:Córdova ME; Pérez-Rojas DO; López-Marquet AD; Arenas R
[Ad] Dirección:Sección de Dermatología, Hospital Ángeles León, Guanajuato, México.
[Ti] Título:Exogenous Ochronosis in Facial Melasma.
[Ti] Título:Ocronosis exógena en melasma facial..
[So] Fuente:Actas Dermosifiliogr;108(4):381-383, 2017 May.
[Is] ISSN:1578-2190
[Cp] País de publicación:Spain
[La] Idioma:eng; spa
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Em] Mes de ingreso:1701
[Cu] Fecha actualización por clase:170501
[Lr] Fecha última revisión:170501
[St] Status:In-Data-Review


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[PMID]:28028161
[Au] Autor:Taylor AM; Hsueh MF; Ranganath LR; Gallagher JA; Dillon JP; Huebner JL; Catterall JB; Kraus VB
[Ad] Dirección:Lancaster Medical School, Faculty of Health & Medicine, Lancaster University, Lancaster, UK a.m.taylor@lancs.ac.uk.
[Ti] Título:Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing.
[So] Fuente:Rheumatology (Oxford);56(1):156-164, 2017 Jan.
[Is] ISSN:1462-0332
[Cp] País de publicación:England
[La] Idioma:eng
[Ab] Resumen:OBJECTIVE: Alkaptonuria (AKU) is a rare autosomal recessive disease resulting from a single enzyme deficiency in tyrosine metabolism. As a result, homogentisic acid cannot be metabolized, causing systemic increases. Over time, homogentisic acid polymerizes and deposits in collagenous tissues, leading to ochronosis. Typically, this occurs in joint cartilages, leading to an early onset, rapidly progressing osteoarthropathy. The aim of this study was to examine tissue turnover in cartilage affected by ochronosis and its role in disease initiation and progression. METHODS: With informed patient consent, hip and knee cartilages were obtained at surgery for arthropathy due to AKU (n = 6; 2 knees/4 hips) and OA (n = 12; 5 knees/7 hips); healthy non-arthritic (non-OA n = 6; 1 knee/5 hips) cartilages were obtained as waste from trauma surgery. We measured cartilage concentrations (normalized to dry weight) of racemized aspartate, GAG, COMP and deamidated COMP (D-COMP). Unpaired AKU, OA and non-OA samples were compared by non-parametric Mann-Whitney U test. RESULTS: Despite more extractable total protein being obtained from AKU cartilage than from OA or non-OA cartilage, there was significantly less extractable GAG, COMP and D-COMP in AKU samples compared with OA and non-OA comparators. Racemized Asx (aspartate and asparagine) was significantly enriched in AKU cartilage compared with in OA cartilage. CONCLUSIONS: These novel data represent the first examination of cartilage matrix components in a sample of patients with AKU, representing almost 10% of the known UK alkaptonuric population. Compared with OA and non-OA, AKU cartilage demonstrates a very low turnover state and has low levels of extractable matrix proteins.
[Mh] Términos MeSH primario: Envejecimiento/metabolismo
Alcaptonuria/metabolismo
Cartílago Articular/metabolismo
Artropatías/metabolismo
Ocronosis/metabolismo
[Mh] Términos MeSH secundario: Adulto
Anciano
Anciano de 80 o más Años
Ácido Aspártico/metabolismo
Biomarcadores/metabolismo
Proteína de la Matriz Oligomérica del Cartílago/metabolismo
Estudios de Casos y Controles
Femenino
Glicosaminoglicanos/metabolismo
Articulación de la Cadera
Seres Humanos
Articulación de la Rodilla
Masculino
Mediana Edad
Osteoartritis de la Cadera/metabolismo
Osteoartritis de la Rodilla/metabolismo
Adulto Joven
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (Biomarkers); 0 (Cartilage Oligomeric Matrix Protein); 0 (Glycosaminoglycans); 30KYC7MIAI (Aspartic Acid)
[Em] Mes de ingreso:1706
[Cu] Fecha actualización por clase:170620
[Lr] Fecha última revisión:170620
[Sb] Subgrupo de revista:AIM; IM
[Da] Fecha de ingreso para procesamiento:161229
[St] Status:MEDLINE
[do] DOI:10.1093/rheumatology/kew355


  5 / 611 MEDLINE  
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[PMID]:27943305
[Au] Autor:Lartey M; Krampa FD; Abdul-Rahman M; Quarcoo NL; Yamson P; Hagan PG; Tettey Y; Gyasi R; Adjei AA
[Ad] Dirección:Dermatology Unit, University of Ghana School of Medicine and Dentistry, Accra, Ghana.
[Ti] Título:Use of skin-lightening products among selected urban communities in Accra, Ghana.
[So] Fuente:Int J Dermatol;56(1):32-39, 2017 Jan.
[Is] ISSN:1365-4632
[Cp] País de publicación:England
[La] Idioma:eng
[Ab] Resumen:BACKGROUND: The practice of skin lightening has been reported from North America, Europe, Asia, and Africa. In literature, some prevalence rates exceed 50%, and both sexes are involved. Common agents used include hydroquinone, mercury, corticosteroids, and caustic agents. The agents are easily accessible and affordable with very little regulation. Cutaneous and systemic side effects occur but do not appear to be a deterrent, as the notion of light skin as a surrogate for beauty is strong. In Ghana, anecdotal reports of high bleaching rates among certain urban communities resulted in a study supported by the Food and Drugs Authority to determine various facets of this practice. METHODS: A cross-sectional study among adults in selected urban fishing communities of Accra was undertaken. Consecutive cases were enrolled after written informed consent. A questionnaire was administered, followed by physical examination and clinical photographs. Descriptive statistics were used to analyze the data. RESULTS: Of the 555 participants from the three communities, prevalence was 279 (50.3%). Duration of use ranged from 2 months to 17 years. Approximately 212 (76%) used more than one product, and 231 (82%) used agents on their face and body. Dermatological features were hypopigmentation 270 (96.8%), other color changes including ochronosis 241 (86.4%), changes in consistency 141 (50.3%), striae 157 (56.3%), and infections 42 (15.1%). CONCLUSIONS: The prevalence of skin bleaching was 50.3% in these communities, which is high considering the adverse effects from the practice. We recommend regulation of products by enforcing the law, more education, and a population prevalence study.
[Mh] Términos MeSH primario: Hipopigmentación/inducido químicamente
Ocronosis/inducido químicamente
Enfermedades Cutáneas Infecciosas/inducido químicamente
Preparaciones para Aclaramiento de la Piel/efectos adversos
Población Urbana/estadística & datos numéricos
[Mh] Términos MeSH secundario: Adolescente
Adulto
Anciano
Anciano de 80 o más Años
Estudios Transversales
Femenino
Ghana
Seres Humanos
Hiperpigmentación/inducido químicamente
Masculino
Mediana Edad
Fotografía
Examen Físico
Preparaciones para Aclaramiento de la Piel/uso terapéutico
Encuestas y Cuestionarios
Factores de Tiempo
Adulto Joven
[Pt] Tipo de publicación:JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (Skin Lightening Preparations)
[Em] Mes de ingreso:1707
[Cu] Fecha actualización por clase:170707
[Lr] Fecha última revisión:170707
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:161213
[St] Status:MEDLINE
[do] DOI:10.1111/ijd.13449


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[PMID]:27865997
[Au] Autor:Braconi D; Millucci L; Bernini A; Spiga O; Lupetti P; Marzocchi B; Niccolai N; Bernardini G; Santucci A
[Ad] Dirección:Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, 53100, Siena, Italy.
[Ti] Título:Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins.
[So] Fuente:Biochim Biophys Acta;1861(2):135-146, 2017 02.
[Is] ISSN:0006-3002
[Cp] País de publicación:Netherlands
[La] Idioma:eng
[Ab] Resumen:BACKGROUND: Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism characterized by homogentisic acid (HGA) accumulation due to a deficient activity of the homogentisate 1.2-dioxygenase (HGD) enzyme. This leads to the production of dark pigments that are deposited onto connective tissues, a condition named 'ochronosis' and whose mechanisms are not completely clear. Recently, the potential role of hitherto unidentified proteins in the ochronotic process was hypothesized, and the presence of Serum Amyloid A (SAA) in alkaptonuric tissues was reported, allowing the classification of AKU as a novel secondary amyloidosis. METHODS: Gel electrophoresis, Western Blot, Congo Red-based assays and electron microscopy were used to investigate the effects of HGA on the aggregation and fibrillation propensity of amyloidogenic proteins and peptides [Aß(1-42), transthyretin, atrial natriuretic peptide, α-synuclein and SAA]. LC/MS and in silico analyses were undertaken to identify possible binding sites for HGA (or its oxidative metabolite, a benzoquinone acetate or BQA) in SAA. RESULTS: We found that HGA might act as an amyloid aggregation enhancer in vitro for all the tested proteins and peptides in a time- and dose- dependent fashion, and identified a small crevice at the interface between two HGD subunits as a candidate binding site for HGA/BQA. CONCLUSIONS: HGA might be an important amyloid co- component playing significant roles in AKU amyloidosis. GENERAL SIGNIFICANCE: Our results provide a possible explanation for the clinically verified onset of amyloidotic processes in AKU and might lay the basis to setup proper pharmacological approaches to alkaptonuric ochronosis, which are still lacking.
[Mh] Términos MeSH primario: Proteínas Amiloidogénicas/metabolismo
Ácido Homogentísico/farmacología
Agregación Patológica de Proteínas/inducido químicamente
[Mh] Términos MeSH secundario: Alcaptonuria/metabolismo
Péptidos beta-Amiloides/metabolismo
Amiloidosis/metabolismo
Factor Natriurético Atrial/metabolismo
Sitios de Unión/efectos de los fármacos
Tejido Conectivo/efectos de los fármacos
Tejido Conectivo/metabolismo
Homogentisato 1,2-Dioxigenasa/metabolismo
Seres Humanos
Ocronosis/metabolismo
Oxidación-Reducción/efectos de los fármacos
Prealbúmina/metabolismo
Proteína Amiloide A Sérica/metabolismo
alfa-Sinucleína/metabolismo
[Pt] Tipo de publicación:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nombre de substancia:
0 (Amyloid beta-Peptides); 0 (Amyloidogenic Proteins); 0 (Prealbumin); 0 (Serum Amyloid A Protein); 0 (alpha-Synuclein); 85637-73-6 (Atrial Natriuretic Factor); EC 1.13.11.5 (Homogentisate 1,2-Dioxygenase); NP8UE6VF08 (Homogentisic Acid)
[Em] Mes de ingreso:1710
[Cu] Fecha actualización por clase:171019
[Lr] Fecha última revisión:171019
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:161121
[St] Status:MEDLINE


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[PMID]:27740398
[Au] Autor:Rahimizadeh A; Soufiani H; Hassani V; Rahimizadeh A
[Ad] Dirección:Pars Advanced and Minimally Invasive Manners Research Center, Pars Hospital, Iran University of Medical Sciences, Tehran, Iran; and.
[Ti] Título:Symptomatic pseudarthrosis in ochronotic spine: case report.
[So] Fuente:J Neurosurg Spine;26(2):220-228, 2017 Feb.
[Is] ISSN:1547-5646
[Cp] País de publicación:United States
[La] Idioma:eng
[Ab] Resumen:In this study the authors report the first example of spinal pseudarthrosis in a patient with ochronosis, and they describe the application of posterior-only 360° surgery as an alternative approach to combined anterior-posterior surgery in the management of pseudarthrosis of an ankylosed spine, regardless of its etiology. Spinal involvement in ochronosis produces loss of flexibility and ankylosis of thoracic and lumbar segments. Pseudarthrosis is a serious complication of the diseases that present with ankylosis of the spine. However, its occurrence in ochronotic spine has not been reported previously. Evaluation of progressive paraparesis in a 68-year-old man with ochronosis revealed pseudarthrosis at the T11-12 level. Circumferential dural sac decompression, debridement of the disc space, interbody fusion, and screw-rod fixation were all done via a posterior-only approach. Postoperatively the patient exhibited a marked recovery in terms of pain and neurological status. At the 3-month follow-up, he was able to walk independently. Ochronosis should be included in the etiology of pseudarthrosis. With aggravation of back pain and the appearance of neurological deficits in an already stable patient with any ankylosing disease, pseudarthrosis should be suspected. Furthermore, single-stage, 360°, posterior-only surgery may obviate the need for single-stage or staged anterior-posterior surgical intervention in patients with pseudarthrosis of the thoracic and lumbar spine.
[Mh] Términos MeSH primario: Ocronosis/complicaciones
Ocronosis/cirugía
Seudoartrosis/etiología
Seudoartrosis/cirugía
Vértebras Torácicas/cirugía
[Mh] Términos MeSH secundario: Anciano
Descompresión Quirúrgica/métodos
Diagnóstico Diferencial
Resultado Fatal
Seres Humanos
Fijadores Internos
Masculino
Ocronosis/patología
Ocronosis/orina
Seudoartrosis/patología
Seudoartrosis/orina
Fusión Vertebral/métodos
Vértebras Torácicas/diagnóstico por imagen
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Em] Mes de ingreso:1702
[Cu] Fecha actualización por clase:170817
[Lr] Fecha última revisión:170817
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:161015
[St] Status:MEDLINE
[do] DOI:10.3171/2016.5.SPINE15671


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[PMID]:27817975
[Au] Autor:Karaoglu S; Karaaslan F; Mermerkaya MU
[Ad] Dirección:Acibadem Kayseri Hospital, Kayseri, Turkey. Electronic address: sinankaraoglu@hotmail.com.
[Ti] Título:Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
[So] Fuente:Acta Orthop Traumatol Turc;50(5):584-586, 2016 Oct.
[Is] ISSN:1017-995X
[Cp] País de publicación:Turkey
[La] Idioma:eng
[Ab] Resumen:Alkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogentisic acid oxidase, which results in excess homogentisic acid (HGA) levels. Homogentisic acid and its oxidation products can accumulate in hyaline cartilage, tendons, and ligaments. A 55-year-old male was admitted complaining of worsening chronic pain in his left knee. A radiographic evaluation showed tricompartmental end- stage osteoarthritis. A cemented total knee replacement was performed. At the 10-year follow-up, he had returned to full activity, had no knee pain, and was very satisfied with the outcome. No abnormality was observed in the femoral, tibial, or patellar components on radiography. We believe that total knee replacement is a good option in a patient with marked degenerative arthritis secondary to ochronotic arthritis.
[Mh] Términos MeSH primario: Alcaptonuria/complicaciones
Artroplastia de Reemplazo de Rodilla/métodos
Ocronosis/complicaciones
Osteoartritis de la Rodilla/cirugía
[Mh] Términos MeSH secundario: Dolor Crónico/etiología
Ácido Homogentísico/orina
Seres Humanos
Articulación de la Rodilla/cirugía
Masculino
Mediana Edad
Osteoartritis de la Rodilla/diagnóstico por imagen
Radiografía
Resultado del Tratamiento
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nombre de substancia:
NP8UE6VF08 (Homogentisic Acid)
[Em] Mes de ingreso:1702
[Cu] Fecha actualización por clase:170209
[Lr] Fecha última revisión:170209
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:161108
[St] Status:MEDLINE


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[PMID]:27393085
[Au] Autor:Blumeyer A; Röwert-Huber J; Nast A; Reidel U
[Ad] Dirección:Klinik für Dermatologie, Venerologie und Allergologie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.
[Ti] Título:[Progressive facial hyperpigmentation].
[Ti] Título:Progrediente Hyperpigmentierungen im Gesicht..
[So] Fuente:Hautarzt;67(11):922-924, 2016 Nov.
[Is] ISSN:1432-1173
[Cp] País de publicación:Germany
[La] Idioma:ger
[Mh] Términos MeSH primario: Hidroquinonas/efectos adversos
Ocronosis/inducido químicamente
Ocronosis/diagnóstico
Trastornos de la Pigmentación/inducido químicamente
Trastornos de la Pigmentación/diagnóstico
Preparaciones para Aclaramiento de la Piel/efectos adversos
[Mh] Términos MeSH secundario: Cosméticos
Diagnóstico Diferencial
Progresión de la Enfermedad
Dermatosis Facial/inducido químicamente
Dermatosis Facial/diagnóstico
Femenino
Seres Humanos
Mediana Edad
Pigmentación de la Piel/efectos de los fármacos
[Pt] Tipo de publicación:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nombre de substancia:
0 (Cosmetics); 0 (Hydroquinones); 0 (Skin Lightening Preparations)
[Em] Mes de ingreso:1706
[Cu] Fecha actualización por clase:170916
[Lr] Fecha última revisión:170916
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:160710
[St] Status:MEDLINE


  10 / 611 MEDLINE  
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[PMID]:27320769
[Au] Autor:Akpolat ND; Akpola AO; Metin A
[Ad] Dirección:Department of Dermatology, Beykoz State Hospital, Istanbul, Turkey.
[Ti] Título:Senile-onset ochronosis.
[So] Fuente:Indian J Dermatol Venereol Leprol;82(6):744, 2016 Nov-Dec.
[Is] ISSN:0973-3922
[Cp] País de publicación:India
[La] Idioma:eng
[Mh] Términos MeSH primario: Hiperpigmentación/diagnóstico
Queratosis/diagnóstico
Ocronosis/diagnóstico
[Mh] Términos MeSH secundario: Anciano
Femenino
Seres Humanos
Hiperpigmentación/complicaciones
Queratosis/complicaciones
Ocronosis/complicaciones
[Pt] Tipo de publicación:CASE REPORTS; LETTER
[Em] Mes de ingreso:1705
[Cu] Fecha actualización por clase:170531
[Lr] Fecha última revisión:170531
[Sb] Subgrupo de revista:IM
[Da] Fecha de ingreso para procesamiento:160621
[St] Status:MEDLINE
[do] DOI:10.4103/0378-6323.184204



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