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1دورية أكاديمية
المؤلفون: Lorena Miñones-Suarez, Guiomar Pérez de Nanclares, Silvia Marín-del Barrio, María José Alcázar Villar, Diego de Sotto-Esteban, Eduard Mogas, Lourdes Rey Cordo, Isolina Riaño-Galán, Javier Lumbreras Fernández, Rosaura Leis
المصدر: Anales de Pediatría (English Edition), Vol 99, Iss 2, Pp 129-135 (2023)
مصطلحات موضوعية: Seudohipoparatiroidismo, Hiperfosfatemia, Hipocalcemia, Balance energético, Nutrición, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2341287923001606Test; https://doaj.org/toc/2341-2879Test
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2دورية أكاديمية
المؤلفون: López-Medina, José Antonio
المصدر: Case reports; Vol. 8 No. 2 (2022) ; Case reports; Vol. 8 Núm. 2 (2022) ; Case reports; v. 8 n. 2 (2022) ; 2462-8522
مصطلحات موضوعية: Hyperparathyroidism, Hypoparathyroidism, Pseudohypoparathyroidism, Medicine, Hiperparatiroidismo, Hipoparatiroidismo, Seudohipoparatiroidismo, Medicina
جغرافية الموضوع: Colombia
وصف الملف: application/pdf; text/html
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3دورية أكاديمية
المؤلفون: Díaz-Brochero, Cándida, Diaz-Tribaldos, Diana Carolina, Arteaga-Díaz, Juan Manuel, González-Villa, Ana María, Peralta Franco, Jhon Jairo
المصدر: Case reports; Vol. 8 No. 2 (2022) ; Case reports; Vol. 8 Núm. 2 (2022) ; Case reports; v. 8 n. 2 (2022) ; 2462-8522
مصطلحات موضوعية: Hypocalcemia, Parathyroid Hormone, Pseudohypoparathyroidism, Hipocalcemia, Hormona paratiroidea, Seudohipoparatiroidismo, pseudohipoparatiroidismo
جغرافية الموضوع: Colombia
وصف الملف: application/pdf; text/html
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4دورية أكاديمية
المؤلفون: Manuel André Virú-Loza
المصدر: Acta Médica Peruana, Vol 38, Iss 2 (2021)
مصطلحات موضوعية: Vitamina D, Deficiencia de Vitamina D, Hiperfosfatemia, Raquitismo, Seudohipoparatiroidismo, Hormona Paratiroidea, Medicine
وصف الملف: electronic resource
العلاقة: https://amp.cmp.org.pe/index.php/AMP/article/view/1909Test; https://doaj.org/toc/1018-8800Test; https://doaj.org/toc/1728-5917Test
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5دورية أكاديمية
المؤلفون: Ana Elena Arús Fernández, Licet González Fabian, Elsa García Bacallao, Juan Bustillo Cormac Tur, Pedro González Fernández, Luis Castaño González, Aníbal Aguayo Calcena
المصدر: Revista Cubana de Endocrinología, Vol 30, Iss 2 (2020)
مصطلحات موضوعية: seudohipoparatiroidismo, hipocalcemia, asesoramiento genético, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Trejo, Maria Camila, Roman-Gonzalez, Alejandro, Ruiz, Sebastian, Tobón, Catalina, Castaño, Pablo, Arango, Clara, Prieto, Carolina
المصدر: Revista de la Facultad de Medicina; Vol. 66 Núm. 4 (2018); 643-649 ; Revista de la Facultad de Medicina; Vol. 66 No. 4 (2018); 643-649 ; Revista de la Facultad de Medicina; v. 66 n. 4 (2018); 643-649 ; 2357-3848 ; 0120-0011
مصطلحات موضوعية: Pseudohypoparathyroidism, Parathyroid Diseases, Hypocalcemia, hyperphosphatemia, Medicina, Clinical medicine, Original Research, Endocrinology, Medicine, Health Sciences, Seudohipoparatiroidismo, Enfermedades de las paratiroides, Hipocalcemia, hiperfosfatemia, Medicina Clínica, Investigación original, endocrinología, Ciencias de la Salud
وصف الملف: application/pdf; text/html; application/xml
العلاقة: https://revistas.unal.edu.co/index.php/revfacmed/article/view/66940/69169Test; https://revistas.unal.edu.co/index.php/revfacmed/article/view/66940/69763Test; https://revistas.unal.edu.co/index.php/revfacmed/article/view/66940/70731Test; Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, et al. Epidemiology and Diagnosis of Hypoparathyroidism. J Clin Endocrinol Metab. 2016;101(6):2284-99. http://doi.org/cq55Test.; Cooper MS, Gittoes NJ. Diagnosis and management of hypocalcaemia. BMJ. 2008;336(7656):1298-302. http://doi.org/cs8793Test.; Tafaj O, Jüppner H. Pseudohypoparathyroidism: one gene, several syndromes. J Endocrinol Invest. 2017;40(4):347-56. http://doi.org/f93pqfTest.; Maeda SS, Fortes EM, Oliveira UM, Borba VC, Lazaretti-Castro M. Hypoparathyroidism and pseudohypoparathyroidism. Arq Bras Endocrinol Metabol. 2006;50(4):664-73. http://doi.org/djvqjzTest.; Reis MT, Cattani A, Mendonca BB, Correa PH, Martin RM. A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels. Arq Bras Endocrinol Metabol. 2010;54(8):728-31. http://doi.org/drsscwTest.; Fischer JA, Bourne HR, Dambacher MA, Tschopp F, De Meyer R, Devogelaer JP, et al. Pseudohypoparathyroidism: inheritance and expression of deficient receptor-cyclase coupling protein activity. Clin Endocrinol (Oxf). 1983;19(6):747-54. http://doi.org/d4n599Test.; Farfel Z, Brothers VM, Brickman AS, Conte F, Neer R, Bourne HR. Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. Proc Natl Acad Sci U S A. 1981;78(5):3098-102. http://doi.org/cf28c3Test.; Aida M, Hurukawa Y, Miura K, Mihara A, Kato K. Responsiveness of urinary cyclic AMP and phosphate to parathyroid extract in patients with parathyroid disorders. Tohoku J Exp Med. 1975;115(4):319-25. http://doi.org/d6qw55Test.; Shoemaker AH, Jüppner H. Nonclassic features of pseudohypoparathyroidism type 1A. Curr Opin Endocrinol Diabetes Obes. 2017;24(1):33-8. http://doi.org/f9kfwfTest.; Velez I, Bond M, Ellen S, Ede-Nichols D, Larumbe J, Oramas V, et al. Hereditary osteodystrophy with multiple hormone resistance--a case report. J Clin Pediatr Dent. 2009;34(1):67-9. http://doi.org/cq58Test.; Cartier L, Passig C, Gormaz A, López J. Cambios neuropsicológicos y neurofisiológicos en la enfermedad de Fahr: Report of three sisters. Rev Med Chil. 2002;130(12):1383-90. http://doi.org/ccgt67Test.; Manyam BV. What is and what is not ‘Fahr’s disease’. Parkinsonism Relat Disord. 2005;11(2):73-80. http://doi.org/bdfr72Test.; Piñol-Ripoll G, Mauri-Llerda JA, de la Puerta Martínez-Miró I, Pérez-Lázaro C, Beltrán-Marín I, López Del Val LJ, et al. Diagnóstico diferencial de las calcificaciones intracraneales. Rev Neurol. 2005;41(3):151-5.; Iglesias-Bolaños P, Gutiérrez-Medina S, Bartolomé-Hernández L. Late diagnosis of 1b pseudohypoparathyroidism. Med Clin (Barc). 2017;149(11):508-9. http://doi.org/cq59Test.; Bosworth M, Mouw D, Skolnik DC, Hoekzema G. Clinical inquiries: what is the best workup for hypocalcemia? J Fam Pract. 2008;57(10):677-9.; Kuzel AR, Lodhi MU, Rahim M. Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review. Cureus. 2017;9(11):e1878. http://doi.org/cq6bTest.; Mantovani G. Clinical Review: Pseudohypoparathyroidism: diagnosis and treatment. J Clin Endocrinol Metab. 2011;96(10):3020-30. http://doi.org/bbcbzvTest.; Ucrós-Cuéllar A, Gómez J. A propósito de 3 hermanos con trastornos morfológicos sin tetania e hipo-reactividad a la Parathormona ¿Una nueva entidad clínica? Rev Soc Colomb Endocrinol. 1957;1:181-96.; Bernal E, Hernández C, Reyes B. Hipoparatiroidismo postiroidectomia, hipoparatiroidismo primario y pseudohipoparatiroidismo. Informe de tres casos. Acta Médica Colombiana. 1979;4(4):187-92.; Lopes MP, Kliemann BS, Bini IB, Kulchetscki R, Borsani V, Savi L, et al. Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications. Arch Endocrinol Metab. 2016;60(6):532-6. http://doi.org/cq6dTest.; Underbjerg L, Sikjaer T, Mosekilde L, Rejnmark L. Pseudohypoparathyroidism - epidemiology, mortality and risk of complications. Clin Endocrinol (Oxf). 2016;84(6):904-11. http://doi.org/cq6fTest.; https://revistas.unal.edu.co/index.php/revfacmed/article/view/66940Test
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7دورية أكاديمية
المؤلفون: Perez-Nanclares, Gustavo, Velayos, Teresa, Vela, Amaya, Muñoz-Torres, Manuel, Castaño, Luis
المساهمون: Perez-Nanclares,G, Velayos,T, Vela,A, Castaño,L Endocrinology and Diabetes Research Group, Hospital Universitario Cruces, BioCruces, CIBERER, CIBERDEM, UPV-EHU, Barakaldo, Basque Country, Spain. Muñoz-Torres,M Clinical Management Unit of Endocrinology and Nutrition, Hospital Universitario San Cecilio, Instituto de Investigacion Biosanitaria de Granada, Granada, Spain., This work was partially supported by Grants IT-795-13 and IT-472-07 from the Basque Department of Education http://www.hezkuntza.ejgv.euskadi.net/r43-2591/esTest). TV is supported by the FPI Program of the University of Basque Country (UPVEHU, http://www.ehu.es/p200-home/esTest).
مصطلحات موضوعية: Adulto, Femenino, Subunidades alfa de la Proteína de Unión al GTP Gs, Duplicación de gen, Masculino, Seudohipoparatiroidismo, Adolescente, Medical Subject Headings::Named Groups::Persons::Age Groups::Adult, Medical Subject Headings::Check Tags::Female, Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Acid Anhydride Hydrolases::GTP Phosphohydrolases::GTP-Binding Proteins::Heterotrimeric GTP-Binding Proteins::GTP-Binding Protein alpha Subunits, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Gene Duplication, Medical Subject Headings::Check Tags::Male, Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Pseudohypoparathyroidism, Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent
وصف الملف: application/pdf
العلاقة: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0117691#abstract0Test; Perez-Nanclares G, Velayos T, Vela A, Muñoz-Torres M, Castaño L. Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. PLoS ONE; 10(2):e0117691; http://hdl.handle.net/10668/2568Test; PMC4339194
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8دورية أكاديمية
المؤلفون: Virú Loza, Manuel André
المصدر: Acta Médica Peruana, ISSN 1018-8800, Vol. 38, Nº. 2, 2021 (Ejemplar dedicado a: April-June), pags. 117-122
مصطلحات موضوعية: Vitamina D, Deficiencia de Vitamina D, Hiperfosfatemia, Raquitismo, Seudohipoparatiroidismo, Hormona Paratiroidea, Hipocalcemia, Niño (Fuente: DeCS BIREME), Vitamin D, Vitamin D Deficiency, Hyperphosphatemia, Rickets, Pseudohypoparathyroidism, Parathyroid Hormone, Hypocalcemia, Child (Source: MeSH)
وصف الملف: application/pdf
العلاقة: https://dialnet.unirioja.es/servlet/oaiart?codigo=8391781Test; (Revista) ISSN 1018-8800
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9
المؤلفون: Trejo, María Camila, Román-González, Alejandro, Ruíz, Sebastián, Tobón, Catalina, Castaño, Pablo, Arango, Clara, Prieto, Carolina
المصدر: Revista de la Facultad de Medicina, Volume: 66, Issue: 4, Pages: 643-649, Published: DEC 2018
مصطلحات موضوعية: hiperfosfatemia (DeCS), Enfermedades de las paratiroides, Hypocalcemia, Pseudohypoparathyroidism, Parathyroid Diseases, Seudohipoparatiroidismo, Hipocalcemia, hyperphosphatemia (MeSH)
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______618::7d76323ec4647d5859b0a001c95422f8Test
http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-00112018000400643&lng=en&tlng=enTest -
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المساهمون: [Perez-Nanclares,G, Velayos,T, Vela,A, Castaño,L] Endocrinology and Diabetes Research Group, Hospital Universitario Cruces, BioCruces, CIBERER, CIBERDEM, UPV-EHU, Barakaldo, Basque Country, Spain. [Muñoz-Torres,M] Clinical Management Unit of Endocrinology and Nutrition, Hospital Universitario San Cecilio, Instituto de Investigacion Biosanitaria de Granada, Granada, Spain., This work was partially supported by Grants IT-795-13 and IT-472-07 from the Basque Department of Education http://www.hezkuntza.ejgv.euskadi.net/r43-2591/esTest). TV is supported by the FPI Program of the University of Basque Country (UPVEHU, http://www.ehu.es/p200-home/esTest).
المصدر: Addi. Archivo Digital para la Docencia y la Investigación
instname
Digibug. Repositorio Institucional de la Universidad de Granada
PLoS ONE, Vol 10, Iss 2, p e0117691 (2015)
PLoS ONEمصطلحات موضوعية: Male, Genomic imprinting, albrights hereditary osteodistrophy, BIOCHEMISTRY AND MOLECULAR BIOLOGY, lcsh:Medicine, Thyroid-stimulating hormone, epigenetic defects, Gene Duplication, Gene duplication, GTP-Binding Protein alpha Subunits, Gs, deletion, subunit, Osteodystrophy, Masculino, lcsh:Science, disorders, Adolescente, Genetics, DNA methylation, Multidisciplinary, biology, Adulto, Femenino, Methylation, imprinting control element, Polymerase chain reaction, AGRICULTURAL AND BIOLOGICAL SCIENCES, Pseudohypoparathyroidism, Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings], Female, Duplicación de gen, hormone resistance, Research Article, Adult, musculoskeletal diseases, medicine.medical_specialty, Adolescent, Genetic loci, Check Tags::Male [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Gene Duplication [Medical Subject Headings], Locus (genetics), Internal medicine, Chromogranins, Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], medicine, GNAS complex locus, Humans, natural sciences, MEDICINE, Comparative genomics, lcsh:R, Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Acid Anhydride Hydrolases::GTP Phosphohydrolases::GTP-Binding Proteins::Heterotrimeric GTP-Binding Proteins::GTP-Binding Protein alpha Subunits [Medical Subject Headings], Genome analysis, mutations, medicine.disease, A/B, Endocrinology, Check Tags::Female [Medical Subject Headings], Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Pseudohypoparathyroidism [Medical Subject Headings], Subunidades alfa de la Proteína de Unión al GTP Gs, GS-alpha gene, biology.protein, lcsh:Q, Seudohipoparatiroidismo
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32cff2b570cff98491a370c98053e6f3Test
https://doi.org/10.1371/journal.pone.0117691Test
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