المؤلفون: Rangel, Yully Andrea, Espinosa, Eugenia

المصدر: Biomedica; Vol. 42 No. 3 (2022); 429-434 ; Biomédica; Vol. 42 Núm. 3 (2022); 429-434 ; 2590-7379 ; 0120-4157

مصطلحات موضوعية: Intellectual disability, dystonia, deep brain stimulation, genetic diseases, inborn, dystonic disorders, movement disorders, discapacidad intelectual, distonía, estimulación cerebral profunda, enfermedades genéticas congénitas, trastornos distónicos, trastornos del movimiento

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Relation: https://revistabiomedica.org/index.php/biomedica/article/view/6296/5127; https://revistabiomedica.org/index.php/biomedica/article/view/6296/5149; Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017;49:223-37. https://doi.org/10.1038/ng.3740; Carecchio M, Invernizzi F, González-Latapi P, Panteghini C, Zorzi G, Romito L, et al. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Mov Disord. 2019;34:1516-27. https://doi.org/10.1002/mds.27771; Gorman KM, Meyer E, Kurian MA. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. Eur J Paediatr Neurol. 2018;22:245-56. https://doi.org/10.1016/j.ejpn.2017.11.009; Kawarai T, Miyamoto R, Nakagawa E, Koichihara R, Sakamoto T, Mure H, et al. Phenotype variability and allelic heterogeneity in KMT2B -associated disease. Parkinsonism Relat Disord. 2018;52:55-61. https://doi.org/10.1016/j.parkreldis.2018.03.022; Marogianni C, Georgouli D, Dadouli K, Ntellas P, Rikos D, Hadjigeorgiou GM, et al. Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases. Mol Biol Rep. 2021;48:371-9. https://doi.org/10.1007/s11033-020-06057-3; Zech M, Jech R, Havránková P, Fečíková A, Berutti R, Urgošík D, et al. KMT2B rare missense variants in generalized dystonia. Mov Disord. 2017;32:1087-91. https://doi.org/10.1002/mds.27026; Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, et al. Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. Mov Disord. 2017;32:549-59. https://doi.org/10.1002/mds.26808; Powis AZ, Towne MC, Hagman KDF, Blanco K, Palmaer E, Castro A, et al. Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. Clin Genet. 2020;97:305-11. https://doi.org/10.1111/cge.13657; Dafsari HS, Sprute R, Wunderlich G, Daimagüler HS, Karaca E, Contreras A, et al. Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet. 2019;64:803-13. https://doi.org/10.1038/s10038-019-0625-1; Mohammad SS, Paget SP, Dale RC. Current therapies and therapeutic decision making for childhood-onset movement disorders. Mov Disord. 2019;34:637-56. https://doi.org/10.1002/mds.27661; Akano E, Otite F, Lavenstein B, Ehrlich D. Indications, outcomes and cost of pediatric deep brain stimulation surgeries in the United States: An analysis of the Kids’ inpatient sample (P4.8-021). Neurology. 2019;92:4.8-021.; https://revistabiomedica.org/index.php/biomedica/article/view/6296

الاتاحة: https://revistabiomedica.org/index.php/biomedica/article/view/6296

المؤلفون: Sánchez, Ana Isabel, Mariño, Nathalie, Araujo, Andrés Felipe, Espinosa, Eugenia

المصدر: https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/920.

مصطلحات موضوعية: Distrofia muscular ligada a X, Distrofia muscular de Duchenne, Distrofia muscular de Becker, Duplicación, Distrofinopatías, X-linked muscular dystrophy, Duchenne muscular dystrophy, Becker, Muscular dystrophy, Duplication, Dystrophinopathies

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Relation: Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiological reviews. 2002;82(2):291-329. doi:10.1152/physrev.00028.2001. 2. Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. American journal of human genetics. 1995;56(1):151-7. 3. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology. 2003;2(12):731-40. 4. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology. 2010;9(1):77-93. doi:10.1016/S1474-4422(09)70271-6. 5. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. The New England journal of medicine. 1988;318(21):1363-8. doi:10.1056/NEJM198805263182104 6. Essex C, Roper H. Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay. BMJ. 2001;323(7303):37-8. 7. Bushby KM, Gardner-Medwin D, Nicholson LV, Johnson MA, Haggerty ID, Cleghorn NJ, et al. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. Journal of neurology. 1993;240(2):105-12. 8. Ministerio de Salud y Protección Social, Departamento Administrativo de Ciencia Tecnología e Innovación - Colciencias. Guía de práctica clínica, para la detección temprana, atención integral, seguimiento y rehabilitación de pacientes con diagnóstico de distrofia muscular. Guía No. 37. Bogotá: Ministerio de Salud y Protección Social; 2015. p. 694. 9. Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Microarray-based mutation detection in the dystrophin gene. Human mutation. 2008;29(9):1091-9. doi:10.1002/humu.20831. 10. Stockley TL, Akber S, Bulgin N, Ray PN. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genetic testing. 2006;10(4):229-43. doi:10.1089/gte.2006.10.229. 11. Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Human genetics. 2005;117(1):92-8. doi:10.1007/s00439-005-1270-7. 12. Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics. 2005;6(1):29-35. doi:10.1007/s10048-004-0204-1. 13. Hamed SA, Hoffman EP. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection. American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2006;141B(1):44-50. doi:10.1002/ajmg.b.30234. 14. Nicholson LV, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta neuropathologica. 1990;80(3):239-50. 15. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988;2(1):90-5. 16. Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle & nerve. 2006;34(2):135-44. doi:10.1002/mus.20586. 17. Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottam M, et al. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. J Clin Neurol. 2017;13(1):91-7. doi:10.3988/jcn.2017.13.1.91. 18. Yang J, Li SY, Li YQ, Cao JQ, Feng SW, Wang YY, et al. MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. BMC medical genetics. 2013;14:29. doi:10.1186/1471-2350-14-29. 19. Guo R, Zhu G, Zhu H, Ma R, Peng Y, Liang D, et al. DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. Journal of human genetics. 2015;60(8):435-42. doi:10.1038/jhg.2015.43. 20. Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Human mutation. 2009;30(12):1657-66. doi:10.1002/humu.21114. 21. Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, Baena M, Verdura E, Nascimento A, et al. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PloS one. 2015;10(8):e0135189. doi:10.1371/journal.pone.0135189. 22. Hu XY, Ray PN, Worton RG. Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. The EMBO journal. 1991;10(9):2471-7. 23. White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, et al. Duplications in the DMD gene. Human mutation. 2006;27(9):938-45. doi:10.1002/humu.20367. 24. Tay SK, Ong HT, Low PS. Transaminitis in Duchenne's muscular dystrophy. Annals of the Academy of Medicine, Singapore. 2000;29(6):719-22. 25. Rinaldi C, Wood MJA. Antisense oligonucleotides: the next frontier for treatment of neurological disorders. Nature reviews Neurology. 2018;14(1):9-21. doi:10.1038/nrneurol.2017.148. 26. Nelson CE, Robinson-Hamm JN, Gersbach CA. Genome engineering: a new approach to gene therapy for neuromuscular disorders. Nature reviews Neurology. 2017;13(11):647-61. doi:10.1038/nrneurol.2017.126. 27. Lattanzi A, Duguez S, Moiani A, Izmiryan A, Barbon E, Martin S, et al. Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System. Molecular therapy Nucleic acids. 2017;7:11-9. doi:10.1016/j.omtn.2017.02.004. 28. Mah JK. An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy. Methods Mol Biol. 2018;1687:3-17. doi:10.1007/978-1-4939-7374-3_1. 29. McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101):1489-98. doi:10.1016/S0140-6736(17)31611-2. 30. Yilmaz O, Karaduman A, Topaloglu H. Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis. European journal of neurology. 2004;11(8):541-4. doi:10.1111/j.1468-1331.2004.00866.x. 31. Bell JM, Shields MD, Watters J, Hamilton A, Beringer T, Elliott M, et al. Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy. The Cochrane database of systematic reviews. 2017;1:CD010899. doi:10.1002/14651858.CD010899.pub2.; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/920/981; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/920/1014; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/920/1027; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/920/1040; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/920/1054; Núm. 2 , Año 2019 : Mayo - Agosto; 28; Revista Repertorio de Medicina y Cirugía; https://repositorio.fucsalud.edu.co/handle/001/2918; https://doi.org/10.31260/RepertMedCir.v28.n2.2019.920

الاتاحة: https://doi.org/10.31260/RepertMedCir.v28.n2.2019.920
https://repositorio.fucsalud.edu.co/handle/001/2918

المؤلفون: Paredes , Angela Camila, González , Diana Vanesa, Espinosa , Eugenia

المصدر: https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/966.

مصطلحات موضوعية: Encefalopatía epiléptica STXBP1, epilepsia infantil, síndrome de Ohtahara, trastorno del movimiento, trastorno del comportamiento, trastorno del espectro autista, STXBP1 encephalopathy with epilepsy, epilepsy in childhood, Ohtahara Syndrome, movement disorders, behavior disorders, autism spectrum disorder

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Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018;17(8):e12456. doi:10.1111/gbb.12456; Patzke C, Han Y, Covy J, et al. Analysis of conditional heterozygous STXBP1 mutations in human neurons. J Clin Invest. 2015;125(9):3560-3571. doi:10.1172/JCI78612; Yamashita S, Chiyonobu T, Yoshida M, et al. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1 -related epileptic encephalopathy. Epilepsia. 2016;57(4):e81-e86. doi:10.1111/epi.13338; The DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515(7526):209- 215. doi:10.1038/nature13772; Murillo E. Características de las personas con el síndrome STXBP1 en España: implicaciones para el diagnóstico. An Pediatría. May 2019. doi:10.1016/j.anpedi.2019.04.008; Stamberger H, Nikanorova M, Willemsen MH, et al. 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Neurol Genet. 2017;3(6):e199. doi:10.1212/ NXG.0000000000000199; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1190; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1548; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1547; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1401; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1549; Núm. 3 , Año 2020 : Septiembre-Diciembre; 197; 192; 29; Revista Repertorio de Medicina y Cirugía; https://repositorio.fucsalud.edu.co/handle/001/2942; https://doi.org/10.31260/RepertMedCir.01217273.966

الاتاحة: https://doi.org/10.31260/RepertMedCir.01217273.966
https://repositorio.fucsalud.edu.co/handle/001/2942

المؤلفون: Espinosa, Eugenia, Fuentes, Angélica, Naranjo, Amanda Liliana

المصدر: https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/922.

مصطلحات موضوعية: Encefalitis Rasmussen, Síndrome Rasmussen, Epilepsia parcial continua, Inmunoduladores, Tratamiento, Rasmussen encephalitis, Rasmussen syndrome, Epilepsia partialis continua, Immunomodulator, Treatment

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الاتاحة: https://doi.org/10.31260/RepertMedCir.v28.n2.2019.922
https://repositorio.fucsalud.edu.co/handle/001/2920

المؤلفون: Dias, Pedro A. D.¹ (AUTHOR) pedroaddias@gmail.com, Gómez Espinosa, Eugenia Eréndira¹ (AUTHOR), Chavira Ramírez, David Roberto² (AUTHOR), Rangel Negrín, Ariadna¹ (AUTHOR) ari_rangel@hotmail.com

المصدر: American Journal of Primatology. Jan2024, Vol. 86 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *MONKEYS, *NOISE control, *PHYSIOLOGICAL stress, *NOISE

مصطلحات جغرافية: MEXICO

المؤلفون: Espinosa, Eugenia, Mera, Paola, Toledo, Daniel

المصدر: Revista Med; Vol. 26 No. 1 (2018): january - june; 34-44 ; Revista Med; Vol. 26 Núm. 1 (2018): enero - junio; 34-44 ; 1909-7700 ; 0121-5256

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Relation: http://revistas.unimilitar.edu.co/index.php/rmed/article/view/3990/3299; http://revistas.unimilitar.edu.co/index.php/rmed/article/view/3990/3307; http://revistas.unimilitar.edu.co/index.php/rmed/article/view/3990

الاتاحة: http://revistas.unimilitar.edu.co/index.php/rmed/article/view/3990
https://doi.org/10.18359/rmed.3990

المؤلفون: Chaske, Roberto, Espinosa, Eugenia, Galvis, Clara, Gómez, Heidy, Ruiz, Lina María, Toledo, Daniel, Velez Florez, German Eduardo

المصدر: Revista Med; Vol. 26 No. 1 (2018): january - june; 45-54 ; Revista Med; Vol. 26 Núm. 1 (2018): enero - junio; 45-54 ; 1909-7700 ; 0121-5256

وصف الملف: application/xml; application/pdf

Relation: http://revistas.unimilitar.edu.co/index.php/rmed/article/view/2976/3300; http://revistas.unimilitar.edu.co/index.php/rmed/article/view/2976/3308; http://revistas.unimilitar.edu.co/index.php/rmed/article/view/2976

الاتاحة: http://revistas.unimilitar.edu.co/index.php/rmed/article/view/2976
https://doi.org/10.18359/rmed.2976

المؤلفون: Rangel-Negrín, Ariadna, Gómez-Espinosa, Eugenia Eréndira, Chavira-Ramírez, David Roberto, Dias, Pedro A.D.

المصدر: Science of The Total Environment ; volume 882, page 163585 ; ISSN 0048-9697

الاتاحة: http://dx.doi.org/10.1016/j.scitotenv.2023.163585
https://api.elsevier.com/content/article/PII:S0048969723022040?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0048969723022040?httpAccept=text/plain

المؤلفون: Carvajal-Barrios, Gustavo Adolfo, Ortiz, Jimena, González, Natalia, Arias, José, Guerrero, Pilar, Espinosa, Eugenia, Velandia-Hurtado, Fernando

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Tumor cerebral, Niño, Hipertensión endocraneana, Ganglioglioma, Cefalea, Brain tumour, Child, Intracranial hypertension, Headache

وصف الملف: application/pdf

Relation: https://repository.urosario.edu.co/handle/10336/25039; https://doi.org/10.1016/j.rccan.2018.03.002

الاتاحة: https://repository.urosario.edu.co/handle/10336/25039
https://doi.org/10.1016/j.rccan.2018.03.002

المؤلفون: Sánchez,Óscar, Cabarcas,Lissete, Espinosa,Eugenia, Guevara,Johana María, Echeverri-Peña,Olga Yaneth

المصدر: Revista mexicana de pediatría v.86 n.5 2019

مصطلحات موضوعية: Acidemia isovalérica, acidemia orgánica, hiperamonemia neonatal, error innato del metabolismo, acidosis metabólica

وصف الملف: text/html

الاتاحة: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0035-00522019000500197

المؤلفون: Rangel Negrín, Ariadna, Gómez Espinosa, Eugenia Eréndira, Dias, Pedro

المصدر: SSRN Electronic Journal ; ISSN 1556-5068

الاتاحة: http://dx.doi.org/10.2139/ssrn.4295693

المؤلفون: Carreño, Fidias, Ortiz, Fernando, Espinosa, Eugenia, Pérez, Claudia

مصطلحات موضوعية: Discapacidad, Parálisis cerebral, Infancia, Cuidador informal, Carga familiar, Cuidadores, Carga profesionales, Evaluación, Tests

جغرافية الموضوع: Colombia

Relation: 578-588; Revista de Salud Pública; 17; http://hdl.handle.net/11181/4797; http://dx.doi.org/10.15446/rsap.v17n4.35593

الاتاحة: http://hdl.handle.net/11181/4797
https://doi.org/10.15446/rsap.v17n4.35593

المؤلفون: Rangel Negrín, Ariadna, Coyohua Fuentes, Alejandro, de la Torre Herrera, Amalia, Cano Huertes, Beatriz, Reynoso Cruz, Eduardo, Ceccarelli, Enrico, Gómez Espinosa, Eugenia E., Chavira Ramírez, David R., Moreno Espinoza, Diana E., Canales‐Espinosa, Domingo, Maya Lastra, Natalia, Cruz Miros, Pamela, Cañadas Santiago, Samuel, Garau, Sara, Dias, Pedro A. D.

المساهمون: Consejo Nacional de Ciencia y Tecnología

المصدر: American Journal of Physical Anthropology ; volume 174, issue 3, page 396-406 ; ISSN 0002-9483 1096-8644

الاتاحة: http://dx.doi.org/10.1002/ajpa.24222
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajpa.24222
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajpa.24222

المؤلفون: Espinosa, Eugenia, Montaña, Mónica, Mera, Paola, Echeverri, Olga, Guevara, Johana, Barrera, Luis

المصدر: Revista Med; Vol. 22 No. 1 (2014); 62-67 ; Revista Med; Vol. 22 Núm. 1 (2014); 62-67 ; 1909-7700 ; 0121-5256

مصطلحات موضوعية: acidemia metilmalónica, pancitopenia, Cianocobalamina

وصف الملف: application/pdf

Relation: https://revistas.unimilitar.edu.co/index.php/rmed/article/view/1031/764; Oberholzer VG, Levin B, Burgess EA, Young WF. Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabol- ic acidosis. Arch Dis Child. 1967; (225):492–504.; Fernandes J. Saudubray J, Van den Berghe G, Walter J. Inborn Metabolic Diseases: Diagnosis and Treatment . Springer. 2006. 4th ed. p. 247-257.; Chandler R, Venditti C. Genetic and genomic systems to study methylmalonic acidemia. Mol Genet Metab. 2005; 86(1-2): 34-43.; Dündar H, Ozgül R, Güzel-Ozantürk A, Dursun A, Sivri S, Aliefendioğlu D, et al. A. Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations. Mol Genet Metab. 2012; 106(4): 419–23.; Thomä N, Leadley P. Homology modeling of human meth- ylmalonyl-CoA mutase: a structural basis for point muta- tions causing methylmalonic aciduria. Protein Sci, 1996; 5(9):1922–27.; Barshop B. Disorders of valine-Isoleucine Metablism. In Blau N., Hoffmann G., Leonard J., Clarke J., Eds. Physician ' s Guide to the Treatment and Follow-Up of Metabolic Diseases. Springer. 2006. pp. 81–91.; Leonard J., Clarke J., Eds. Physician ' s Guide to the Treatment and Follow-Up of Metabolic Diseases. Springer. 2006. pp. 81–91.; Melo D, Kowaltowski A, Wajner M, Castilho R. Mitochondrial ener- gy metabolism in neurodegeneration associated with methylmalo- nic acidemia. J Bioenerg Biomembr. 2011; 43(1): 39–46.; Nyhan W. Metabolic Emergencies. In Hoffmann G, Zschocke J, Nyhan W. Inherited Metabolic Diseases. Springer. 2010. pp. 351–369.; Imen M, Hanene B, Ichraf K, Aida R, Ilhem T, Naziha K, et al. Methylmalonic acidemia and hyperglycemia: an unusual associa- tion. Brain Dev. 2012; 34(2): 113–4.; Ruiz M, Sanchez, F, Dalmau J, Gomez L. Tratamiento nutricio- nal de los errores innatos del metabolismo (Segunda Ed.). Madrid. 2007. pp. 196–199.; Prada C, Al Jasmi F, Kirk E, Hopp M, Jones O, Leslie N, et al Burrow TA. Cardiac disease in methylmalonic acidemia. J Pediatr. 2011; 159(5): 862–4.; Williams Z, Hurley P, Altiparmak U, Feldon S, Arnold G. Late on- set optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol. 2009;147(5): 929–33.; Lee N, Chien Y, Peng S, Huang A, Liu T, et al. Brain damage by mild metabolic derangements in methylmalonic acidemia. Pediatr Neurol. 2008; 39(5), 325–9.; Bennett M, Whitley R, Rinaldo P. Follow-up testing for metabolic diseases identified by expanded newborn screening using tandem mass spectrometry. Washington. The National Academy of Clinical Biochemistry Ed. 2009. pp. 31–37.; Burton B. Inborn errors of metabolism in infancy: a guide to diag- nosis. Pediatrics, 1998; 102(6): 69.; Manoli I, Venditti C. Methylmalonic Acidemia GeneReviews. In Pagon, R.A., Bird, T. D., & Dolan, C. R. Editors.) GeneReview. University of Washington. Seattle. (2005 - Updated 2010).; Mahfoud A, Domínguez C, Pérez A. Diagnóstico y tratamiento de la aciduria metilmalónica: a propósito de un caso. Rev Invest Clin. 2007;48(1): 99–105.; Morel C, Watkins D, Scott P, Rinaldo P, Rosenblatt D. Prena- tal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. Mol Gen Metab. 2005;86(1):160-171.; Pérez V, Hertrampf E, Olivares M. Folato y vitamina B12 en pe- diatría: Mirada actual. Rev Pediatr Electron, 2005; 2(2): 44–52.; Gokcay G, Baykal T, Gokdemir Y, Demirkol M. Breast feeding in organic acidaemias. J Inher Metab Dis. 2006;29(2): 304–10.; Yannicelli S, Acosta P, Velazquez A, Bock H, Marriage B, et al. Improved growth and nutrition status in children with methylmalo- nic or propionic acidemia fed an elemental medical food. Mol Gen Metab. 2003; 80(1): 181–188.; Morris A, Leonard J. Early recognition of metabolic decompensa- tion. Arch Dis Child. 1997; 76(6): 555–6.; Rincón A, Aguado C, Desviat L, Sánchez-Alcudia R, Ugarte M, Pérez B. Propionic and methylmalonic acidemia: antisense thera- peutics for intronic variations causing aberrantly spliced messenger RNA. Am J Hum Genet. 2007;81(6): 1262–70.; Campistol J, Boveda M, Couce M. Protocolo de diagnóstico y tra- tamiento de la acidemia propiónica, metilmalónica e isovalérica. An Esp Pediatr. 1997; 89(1): 9-15.; Kanaumi T, Takashima S, Hirose S, Kodama T, Iwasaki H. Neu- ropathology of methylmalonic acidemia in a child. Pediatr Neurol. 2006;34(2): 156–9.; Ma X, Zhang Y, Yang Y, Liu X, Yang Z, et al. Epilepsy in children with methylmalonic acidemia: electroclinical features and progno- sis. Brain Dev. 2011; 33(9): 790–5.; https://revistas.unimilitar.edu.co/index.php/rmed/article/view/1031

الاتاحة: https://revistas.unimilitar.edu.co/index.php/rmed/article/view/1031

المؤلفون: Espinosa Eugenia, Martinez Natalia, García Divahia, Lanau Sara

المصدر: Clinical Case Reports and Reviews. 7

مصطلحات موضوعية: Leukoencephalopathy, Pathology, medicine.medical_specialty, business.industry, medicine, General Medicine, General Chemistry, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b46a1a811431369f9fcb848784fd064e
https://doi.org/10.15761/ccrr.1000497

Alternate Title: Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case report.

المؤلفون: Andrea Rangel, Yully¹, Espinosa, Eugenia¹

المصدر: Revista Biomedica. sep2022, Vol. 42 Issue 3, p429-434. 6p.

المؤلفون: Colomer Espinosa, Eugenia

المصدر: Cuadernos de teología - Universidad Católica del Norte (On line); Vol. 4 No. 2 (2012): A 50 años del Concilio Vaticano II; 164-181 ; Cuadernos de teología - Universidad Católica del Norte (En línea); Vol. 4 Núm. 2 (2012): A 50 años del Concilio Vaticano II; 164-181 ; 0719-8175

مصطلحات موضوعية: Concilio Vaticano II, Renovación, Perfectae Caritatis, Horizonte, Deificación, II Vatican Council, Renewal, Horizon, Deification

وصف الملف: application/pdf

Relation: https://revistas.ucn.cl/index.php/teologia/article/view/1012/813; https://revistas.ucn.cl/index.php/teologia/article/view/1012

الاتاحة: https://revistas.ucn.cl/index.php/teologia/article/view/1012
https://doi.org/10.22199/S07198175.2012.0002.00002

المؤلفون: Bermúdez, Martha Cecilia, Bernal, Jaime, Espinosa, Eugenia, Cornejo Ochoa, José William, Briceño, Ignacio, Prieto, Juan, Arrieta, Leopoldo, Merinero, Begonia, Pérez, Celia, Ugarte, Magdalena

مصطلحات موضوعية: Homocistinuria, Homocystinuria, Hiperhomocisteinemia, Hyperhomocysteinemia, Cistationina betasintasa, Cystathionine beta-Synthase

وصف الملف: application/pdf

Relation: Act Neurol. Colomb.; http://hdl.handle.net/10495/21557

الاتاحة: http://hdl.handle.net/10495/21557
https://doi.org/10.22379/issn.2422-4022

المؤلفون: Chaske, Roberto, Espinosa, Eugenia, Galvis, Clara, Gómez, Heidy, Ruiz, Lina María, Toledo, Daniel, Velez Florez, German Eduardo

المصدر: Revista Med; Vol. 26 No. 1 (2018): january-june; 45-54
Revista Med; Vol. 26 Núm. 1 (2018): enero-junio; 45-54

وصف الملف: application/xml; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2802::519b8419f66eac4d1e503e61281ce299
https://revistas.unimilitar.edu.co/index.php/rmed/article/view/2976

المؤلفون: Carvajal-Barrios, Gustavo Adolfo, Ortiz, Jimena, González, Natalia, Arias, José, Velandia, Fernando, Guerrero, Pilar, Espinosa, Eugenia

المصدر: Revista Colombiana de Cancerología, Volume: 22, Issue: 4, Pages: 180-185, Published: DEC 2018

مصطلحات موضوعية: Tumor cerebral, Hipertensión endocraneana, Niño, Headache, Brain tumour, Cefalea, Child, Intracranial hypertension, Ganglioglioma

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______618::4149b7a5f9fda07608cfa5691b7d4798
http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0123-90152018000400180&lng=en&tlng=en