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array:23 [ "pii" => "S0025775300716393" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71639-3" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71639" "copyright" => "Elsevier España, S.L.. Todos los derechos reservados" "copyrightAnyo" => "2000" "documento" => "article" "crossmark" => 0 "subdocumento" => "fla" "cita" => "Med Clin. 2000;115:610-6" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 2190 "formatos" => array:3 [ "EPUB" => 6 "HTML" => 2009 "PDF" => 175 ] ] "itemSiguiente" => array:18 [ "pii" => "S002577530071640X" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71640-X" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71640" "copyright" => "Elsevier España, S.L." 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Rosario Hernández Ibáñez, José Teruel Gila" "autores" => array:6 [ 0 => array:2 [ "nombre" => "José" "apellidos" => "Baena Díez" ] 1 => array:2 [ "nombre" => "Cristina" "apellidos" => "López Mompó" ] 2 => array:2 [ "nombre" => "Francesc" "apellidos" => "Rams Rams" ] 3 => array:2 [ "nombre" => "Manuel" "apellidos" => "García Lareo" ] 4 => array:2 [ "nombre" => "M." "apellidos" => "Rosario Hernández Ibáñez" ] 5 => array:2 [ "nombre" => "José" "apellidos" => "Teruel Gila" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S002577530071640X?idApp=UINPBA00004N" "url" => "/00257753/0000011500000016/v1_201307291652/S002577530071640X/v1_201307291652/es/main.assets" ] "itemAnterior" => array:18 [ "pii" => "S0025775300716381" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71638-1" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71638" "copyright" => "Elsevier España, S.L." "documento" => "article" "crossmark" => 0 "subdocumento" => "fla" "cita" => "Med Clin. 2000;115:605-9" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 1422 "formatos" => array:3 [ "EPUB" => 5 "HTML" => 1277 "PDF" => 140 ] ] "es" => array:10 [ "idiomaDefecto" => true "titulo" => "Resistencia de <span class="elsevierStyleItalic">Mycobacterium tuberculosis</span> en Zaragoza (1993–1997) y factores asociados" "tienePdf" => "es" "tieneTextoCompleto" => 0 "tieneResumen" => array:2 [ 0 => "es" 1 => "en" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "605" "paginaFinal" => "609" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Resistance of <span class="elsevierStyleItalic">Mycobacterium tuberculosis</span> Zaragoza, Spain (1993–1997) and related factors." ] ] "contieneResumen" => array:2 [ "es" => true "en" => true ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Luis Torres, Piedad Arazo, Juan Blas Pérezc, María del Pilar Amador, María Antonia Lezcano, María José Revillo, Juan Bautista García-Moya" "autores" => array:7 [ 0 => array:2 [ "nombre" => "Luis" "apellidos" => "Torres" ] 1 => array:2 [ "nombre" => "Piedad" "apellidos" => "Arazo" ] 2 => array:2 [ "nombre" => "Juan" "apellidos" => "Blas Pérezc" ] 3 => array:2 [ "nombre" => "María" "apellidos" => "del Pilar Amador" ] 4 => array:2 [ "nombre" => "María" "apellidos" => "Antonia Lezcano" ] 5 => array:2 [ "nombre" => "María" "apellidos" => "José Revillo" ] 6 => array:2 [ "nombre" => "Juan" "apellidos" => "Bautista García-Moya" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775300716381?idApp=UINPBA00004N" "url" => "/00257753/0000011500000016/v1_201307291652/S0025775300716381/v1_201307291652/es/main.assets" ] "es" => array:14 [ "idiomaDefecto" => true "titulo" => "Manifestaciones fenotípicas de la cistinuria: estudio de 20 familias en la Comunidad Valenciana" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "610" "paginaFinal" => "616" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Marisa Guillén, Dolores Corella, M. Luisa Cabellob, José I. González, José Hernández Yago" "autores" => array:5 [ 0 => array:4 [ "nombre" => "Marisa" "apellidos" => "Guillén" "email" => array:1 [ 0 => "marisa.guillen@uv.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Dolores" "apellidos" => "Corella" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "M." "apellidos" => "Luisa Cabellob" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "José I." "apellidos" => "González" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 4 => array:3 [ "nombre" => "José" "apellidos" => "Hernández Yago" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Unidad de Epidemiología Genética y Molecular. Departamento de Medicina Preventiva y Salud Pública. Universitat de Valência. Valencia." "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Metabolopatías. Hospital Universitario La Fe. Valencia." "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Instituto de Investigaciones Citológicas. Fundación Valenciana de Investigaciones Biomédicas. Valencia." "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Unidad de Epidemiología Genética y Molecular. Departamento Medicina Preventiva y Salud Pública. Facultad de Medicina. Avda. Blasco Ibáñez, 15. 46010 Valencia." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Phenotypical traits in cystinuria: a study of 20 families in the Comunidad Valenciana (Spain)" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2000-05-05" "fechaAceptado" => "2000-09-28" "PalabrasClave" => array:1 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec222544" "palabras" => array:3 [ 0 => "Cistinuria" 1 => "Fenotipos" 2 => "Transmisión hereditaria" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Fundamento</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El objetivo de este trabajo fue realizar una caracterización fenotípica de los pacientes con cistinuria en la Comunidad Valenciana en el contexto de su genealogía y abordar desde esta perspectiva la amplia heterogeneidad de esta enfermedad.</p> <span class="elsevierStyleSectionTitle">Sujetos y método</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A partir de 29 individuos que habían sido diagnosticados de cistinuria con anterioridad a este estudio se logró la colaboración de 20 familias. Se recogió una muestra de orina de cada individuo, se analizó el sedimento y se cuantificaron los aminoácidos mediante cromatografía de alta resolución. El análisis genético se llevó a cabo mediante reacción en cadena de la polimerasa (PCR) y análisis de patrones de polimorfismos de restricción (RFLP). Mediante un cuestionario se obtuvieron las variables demográficas y clínicas.</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">De las 20 familias participantes en el estudio, se clasificaron 4 como tipo I, 10 como tipo no I, y 6 como de tipo desconocido. Los pacientes con cistinuria tipo I presentaron valores de cistina y ornitina superiores. Asimismo, se asoció la presencia de cristales de cistina y de la mutación M 467 T en el gen<span class="elsevierStyleItalic">SLC 3A 1</span>con el tipo familiar I. Sin embargo, no se encontró un mayor riesgo de nefrolitiasis asociado al tipo familiar.</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">La caracterización fenotípica de los pacientes con cistinuria en el contexto de su genealogía nos ha permitido constatar la amplia variabilidad de manifestaciones fenotípicas incluso dentro del mismo patrón de transmisión. Esta variabilidad podría ser debida a la heterogeneidad genética y ambiental que ha desencadenado esta enfermedad y modulado su evolución.</p>" ] "en" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Background</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">The aim of this study was to classify phenotypically cystinuria patients in the Comunidad Valenciana using their genealogy and to study the large heterogeneity of the disease expression.</p> <span class="elsevierStyleSectionTitle">Subjects and method</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">From 29 patients diagnosed of cystinuria, 20 families were enroled in the study. An urine sample of every subject was collected to quantify urine aminoacides using high pressure liquid chromatography. We also looked for the presence of cystine crystals. Genetic analyses were carried out using PCR (Polymerase Chain Reaction), and RFLPs (Restriction Fragment Length Polymorphisms). Demographic and clinical characteristics were recorded in a standard questionnaire.</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">From 20 families, 4 were classified Type I, 10 as Type non I, and 6 as Type unknown. Type I cystinuria patients showed the highest urinary levels of cystine and ornithine. We also found an association of cystine crystals and M 467 T mutation in<span class="elsevierStyleItalic">SLC 3A1</span>gene with Type I. However, we did not find a higher risk of nefrolithiasis associated to any family type.</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Phenotypical characterization of patients with cystinuria has showed the wide variability of phenotypical traits indeed in the same transmission pattern. This variability could be due to the genetic and environmental heterogeneity which has developed this pathology and modulated its evolution.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Referencias Bibliográficas" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:28 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cystinuria" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "S. Segal" 1 => "S.O. Thier" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "LibroEditado" => array:4 [ "titulo" => "The molecular and metabolic basis of inherited disease" "paginaInicial" => "3581" "paginaFinal" => "3601" "serieFecha" => "1995" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The natural history of cystinuria: a 15 year follow-up in 106 patients" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "F. Linari" 1 => "M. Marangella" 2 => "B. Fruttero" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "LibroEditado" => array:4 [ "titulo" => "Urolithiasis" "paginaInicial" => "145" "paginaFinal" => "158" "serieFecha" => "1980" ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Clinical features and management of cystinuria" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "P.J. Dahlberg" 1 => "C.J. Van den Berg" 2 => "S.B. Kurtz" 3 => "D.M. Wilson" 4 => "L.H. Smith" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Mayo Clin Proc" "fecha" => "1977" "volumen" => "52" "paginaInicial" => "533" "paginaFinal" => "542" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/895195" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pediatric nephrolithiasis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "R.S. Malek" 1 => "P.P. Kelalis" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Urol" "fecha" => "1975" "volumen" => "129" "paginaInicial" => "545" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/6834544" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genetics of cystinuria in an inbred population" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "R.J. Cadwell" 1 => "J.I. Townsend" 2 => "M.J.V. Smith" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Urol" "fecha" => "1978" "volumen" => "119" "paginaInicial" => "531" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/650761" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Urolithiasis in childhood" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "M.S. Polinsky" 1 => "B.A. Kaiser" 2 => "H.J. Balaurte" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Pediatr Clin North Am" "fecha" => "1987" "volumen" => "34" "paginaInicial" => "683" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/3295722" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Urolithiasis in pediatrics patients" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "D.S. Milliner" 1 => "M.E. Murphy" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:4 [ "tituloSerie" => "Mayo Clin Proc" "fecha" => "1993" "volumen" => "34" "paginaInicial" => "683" ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0040" "etiqueta" => "8." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Phenotypes and genotypes in cystinuria" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "H. Harris" 1 => "U. Mittwoch" 2 => "E.B. Robson" 3 => "F.L. Warren" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Ann Hum Genet" "fecha" => "1955" "volumen" => "20" "paginaInicial" => "57" "paginaFinal" => "91" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/13249226" "web" => "Medline" ] ] ] ] ] ] ] ] 8 => array:3 [ "identificador" => "bib0045" "etiqueta" => "9." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cystinuria: biochemical evidence for three genetically distinct disease" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "L.E. Rosenberg" 1 => "S. Dowing" 2 => "J.L. Durant" 3 => "S. Segal" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1172/JCI105351" "Revista" => array:6 [ "tituloSerie" => "J Clin Invest" "fecha" => "1966" "volumen" => "45" "paginaInicial" => "365" "paginaFinal" => "371" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/5904553" "web" => "Medline" ] ] ] ] ] ] ] ] 9 => array:3 [ "identificador" => "bib0050" "etiqueta" => "10." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "M.J. Calonge" 1 => "P. Gasparini" 2 => "J. Chillarón" 3 => "M. Chillón" 4 => "M. Galluci" 5 => "F. Roussad" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng0494-420" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1994" "volumen" => "6" "paginaInicial" => "420" "paginaFinal" => "425" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8054986" "web" => "Medline" ] ] ] ] ] ] ] ] 10 => array:3 [ "identificador" => "bib0055" "etiqueta" => "11." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Estudio genético y molecular de la cistinuria en la Comunidad Valenciana" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "M.L. Guillén" 1 => "D. Corella" 2 => "M.L. Cabello" 3 => "A.M. García" 4 => "C. Saiz" 5 => "J.I. González" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Med Clin (Barc)" "fecha" => "1999" "volumen" => "113" "paginaInicial" => "321" "paginaFinal" => "326" ] ] ] ] ] ] 11 => array:3 [ "identificador" => "bib0060" "etiqueta" => "12." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Manejo médico del paciente cistinúrico" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "F. Rousaud" 1 => "A. Rousaud" 2 => "P. Barceló" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:4 [ "tituloSerie" => "Rev Port Nefrol Hipert" "fecha" => "1994" "volumen" => "8" "paginaInicial" => "289" ] ] ] ] ] ] 12 => array:3 [ "identificador" => "bib0013" "etiqueta" => "13." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "M. Guillén" 1 => "D. Corella" 2 => "M.L. Cabello" 3 => "A.M. García" 4 => "J. Hernández-Yago" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Clin Biochem" "fecha" => "1999" "volumen" => "32" "paginaInicial" => "25" "paginaFinal" => "30" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10074888" "web" => "Medline" ] ] ] ] ] ] ] ] 13 => array:3 [ "identificador" => "bib0070" "etiqueta" => "14." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cystinuria: excretion of a cystinecomplex which decomposes in the urine with the liberation of free cystine" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "E. Brand" 1 => "M.M. Harris" 2 => "S. Biloon" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Biol Chem" "fecha" => "1930" "volumen" => "86" "paginaInicial" => "315" "paginaFinal" => "319" ] ] ] ] ] ] 14 => array:3 [ "identificador" => "bib0075" "etiqueta" => "15." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Determination of free and total homocysteine in human plasma by high perfomanc liquid chromatography with fluorescence detection" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "A. Araki" 1 => "Y. Sako" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Chrom Biomed Appl" "fecha" => "1991" "volumen" => "565" "paginaInicial" => "441" "paginaFinal" => "446" ] ] ] ] ] ] 15 => array:3 [ "identificador" => "bib0080" "etiqueta" => "16." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Determination of aromatic and neutral aminoacids by HPLC in blood specimens collected on filter paper" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "P. Schrynemackerss-Pitance" 1 => "E. Schoos-Barbette" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Clin Chim Acta" "fecha" => "1987" "volumen" => "166" "paginaInicial" => "91" "paginaFinal" => "97" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/3608204" "web" => "Medline" ] ] ] ] ] ] ] ] 16 => array:3 [ "identificador" => "bib0085" "etiqueta" => "17." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Uber den Niederschlag welchen Pikrinsäure in normalen Harn erzeugt undüber eine neue Reaction des Kreatinins" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "M. Jaffé" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Z Physiol Chem" "fecha" => "1885" "volumen" => "10" "paginaInicial" => "391" "paginaFinal" => "400" ] ] ] ] ] ] 17 => array:3 [ "identificador" => "bib0090" "etiqueta" => "18." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Use of silica gel polymer for DNA extraction with organic solvents" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "L.L. Tilzer" 1 => "S.M. Thomas" 2 => "R.E. Moreno" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Anal Biochem" "fecha" => "1989" "volumen" => "183" "paginaInicial" => "13" "paginaFinal" => "15" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/2559624" "web" => "Medline" ] ] ] ] ] ] ] ] 18 => array:3 [ "identificador" => "bib0095" "etiqueta" => "19." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cystinuria genotypes predicted from excretion patterns" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "S. Kelly" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Am J Med Gen" "fecha" => "1978" "volumen" => "2" "paginaInicial" => "175" "paginaFinal" => "190" ] ] ] ] ] ] 19 => array:3 [ "identificador" => "bib0100" "etiqueta" => "20." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cystinuria in Sweden.VII. Clinical, histopathological and medicosocial aspects of the disease" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "H. Borström" 1 => "L. Hambraeaus" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:2 [ "tituloSerie" => "Acta Med Scand" "fecha" => "1964" ] ] ] ] ] ] 20 => array:3 [ "identificador" => "bib0105" "etiqueta" => "21." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Proceedings: Rarity of cystinuria type I among cystinuric jews of Lybian origin" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "A. Weinberger" 1 => "O. Sperling" 2 => "M. Rabinovitz" 3 => "S. Brosh" 4 => "A. Adam" 5 => "A. De Vries" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Isr J Med Sci" "fecha" => "1975" "volumen" => "11" "paginaInicial" => "1217" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/1205811" "web" => "Medline" ] ] ] ] ] ] ] ] 21 => array:3 [ "identificador" => "bib0110" "etiqueta" => "22." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Prospective analysis and classification of patients with cystinuria identified in a newborn screening program" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "P. Goodyer" 1 => "C. Clow" 2 => "T. Reade" 3 => "C. Girardin" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Pediatr" "fecha" => "1993" "volumen" => "122" "paginaInicial" => "568" "paginaFinal" => "572" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8463902" "web" => "Medline" ] ] ] ] ] ] ] ] 22 => array:3 [ "identificador" => "bib0115" "etiqueta" => "23." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cystinuria subtype and the risk of nephrolithiasis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "P. Goodyer" 1 => "I. Saadi" 2 => "P. Ong" 3 => "G. Elkas" 4 => "R. Rozen" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1046/j.1523-1755.1998.00957.x" "Revista" => array:6 [ "tituloSerie" => "Kidney Int" "fecha" => "1998" "volumen" => "54" "paginaInicial" => "56" "paginaFinal" => "61" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9648063" "web" => "Medline" ] ] ] ] ] ] ] ] 23 => array:3 [ "identificador" => "bib0120" "etiqueta" => "24." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Localization, by linkage analysis, of the cystinuria type III gene tochromosome 19q13.1" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "L. Bisceglia" 1 => "M.J. Calonge" 2 => "A. Tortaro" 3 => "L. Feliubadaló" 4 => "S. Melchionda" 5 => "J. García" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1997" "volumen" => "60" "paginaInicial" => "611" "paginaFinal" => "616" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9042921" "web" => "Medline" ] ] ] ] ] ] ] ] 24 => array:3 [ "identificador" => "bib0125" "etiqueta" => "25." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular analysis of cystinuria in Lybian Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "R. Wartenfeld" 1 => "E. Golomb" 2 => "G. Katz" 3 => "S.J. Bale" 4 => "B. Goldman" 5 => "M. Pras" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1997" "volumen" => "60" "paginaInicial" => "617" "paginaFinal" => "624" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9042922" "web" => "Medline" ] ] ] ] ] ] ] ] 25 => array:3 [ "identificador" => "bib0130" "etiqueta" => "26." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polimorphism" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "L. Bisceglia" 1 => "M.J. Calonge" 2 => "L. Dello" 3 => "G. Rizzoni" 4 => "L. De Sanctis" 5 => "M. Galluci" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Hum Genet" "fecha" => "1996" "volumen" => "8" "paginaInicial" => "447" "paginaFinal" => "451" ] ] ] ] ] ] 26 => array:3 [ "identificador" => "bib0135" "etiqueta" => "27." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in the type I (silent) phenotype" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "I. Saadi" 1 => "X. Chen" 2 => "M. Hediger" 3 => "P. Ong" 4 => "P. Pereira" 5 => "P. Goodyer" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1046/j.1523-1755.1998.00956.x" "Revista" => array:6 [ "tituloSerie" => "Kidney Int" "fecha" => "1998" "volumen" => "54" "paginaInicial" => "48" "paginaFinal" => "55" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9648062" "web" => "Medline" ] ] ] ] ] ] ] ] 27 => array:3 [ "identificador" => "bib0140" "etiqueta" => "28." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Non-type I cystinuria caused by mutations in SLC7A9 encoding a subunit (bo, +AT) of rBAT" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "L. Feliubadaló" 1 => "M. Font" 2 => "J. Purroy" 3 => "F. Rousaud" 4 => "X. Estivill" 5 => "V. Nunes" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/12652" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1999" "volumen" => "23" "paginaInicial" => "52" "paginaFinal" => "57" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10471498" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "es" "url" => "/00257753/0000011500000016/v1_201307291652/S0025775300716393/v1_201307291652/es/main.assets" "Apartado" => array:4 [ "identificador" => "24087" "tipo" => "SECCION" "es" => array:2 [ "titulo" => "Original breve" "idiomaDefecto" => true ] "idiomaDefecto" => "es" ] "PDF" => "https://static.elsevier.es/multimedia/00257753/0000011500000016/v1_201307291652/S0025775300716393/v1_201307291652/es/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775300716393?idApp=UINPBA00004N" ]
