Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Pilar, Durán Parejo"'
Autor:
Alejandro Caro Pérez, Sarita Kumble, Krishnanand D. Kumble, M. Consuelo Alonso Cañizal, Luis M. Jiménez Jiménez, Lorena Alonso Díez, Pilar Durán Parejo
Publikováno v:
Autoimmune Diseases, Vol 2014 (2014)
The performance of immunoassays for the detection of autoantibodies is of critical importance in the diagnosis and assessment of patients with autoimmune connective tissue diseases (ACTD). Our objective was to compare the features of two multiplexed
Externí odkaz:
https://doaj.org/article/76b6ad6a7f974f619d0983c56f60f435
Publikováno v:
Revista del Laboratorio Clínico. 9:17-20
Resumen Introduccion La enfermedad de Pompe, tambien denominada deficit de maltasa acida o glucogenosis tipo ii, es un trastorno metabolico autosomico recesivo caracterizado por un acumulo anormal de glucogeno lisosomal, causado por la deficiencia de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ef46e6334897d725a64b913cffa5bd7
https://doi.org/10.1016/j.labcli.2016.01.001
https://doi.org/10.1016/j.labcli.2016.01.001
Publikováno v:
Medicina Clínica. 145:281-287
Resumen Fundamento y objetivo La enfermedad de Gaucher es un trastorno hereditario, que se origina como consecuencia del deficit de la actividad β-glucocerebrosidasa acida, responsable de la degradacion de glucosilceramida hasta ceramida y glucosa.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::873a7abb9b73bad636d4ef1b05b6b5e5
https://doi.org/10.1016/j.medcli.2014.11.018
https://doi.org/10.1016/j.medcli.2014.11.018
Publikováno v:
Medicina Clínica (English Edition). 145:281-287
Background and objective Gaucher disease is an inherited disorder caused by deficit of acid β-glucocerebrosidase, responsible for the degradation of glucosylceramide to ceramide and glucose. Although the disorder is primarily hematologic, bone is th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::719c2679078e739de3f80e7359cce637
https://doi.org/10.1016/j.medcle.2016.02.033
https://doi.org/10.1016/j.medcle.2016.02.033
Publikováno v:
Medicina Clínica. 141:106-110
Resumen Fundamento y objetivos La enfermedad de Pompe es un trastorno originado por la deficiencia de la enzima alfa glucosidasa acida (GAA). En esta afeccion se produce un acumulo de glucogeno lisosomal en diferentes tejidos, estando especialmente i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb5fa7e01dc761320acbd17e002c1af2
https://doi.org/10.1016/j.medcli.2013.02.035
https://doi.org/10.1016/j.medcli.2013.02.035
Autor:
Joaquín Bobillo Lobato, Alejandro Caro Pérez, Luis Manuel Jiménez Jiménez, Pilar Durán Parejo
Publikováno v:
Revista del Laboratorio Clínico. 4:153-157
Resumen Las enfermedades de deposito lisosomal son errores congenitos del metabolismo originados por la deficiencia hereditaria de hidrolasas lisosomales, causando un acumulo progresivo de moleculas complejas que no pueden degradarse. El diagnostico
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8514d44b197ae9e3d30ae8e2ab9110d
https://doi.org/10.1016/j.labcli.2011.04.001
https://doi.org/10.1016/j.labcli.2011.04.001
Autor:
Joaquín, Bobillo Lobato, Pilar, Durán Parejo, Ramiro J, Núñez Vázquez, Luis M, Jiménez Jiménez
Publikováno v:
Medicina clinica. 145(7)
Gaucher disease is an inherited disorder caused by deficit of acid β-glucocerebrosidase, responsible for the degradation of glucosylceramide to ceramide and glucose. Although the disorder is primarily hematologic, bone is the second most commonly af
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a7317b58b539ee51670fdb6c69113538
https://pubmed.ncbi.nlm.nih.gov/25662720
https://pubmed.ncbi.nlm.nih.gov/25662720
Autor:
Luis Jiménez, Sarita Kumble, M. Consuelo Alonso Cañizal, Pilar Durán Parejo, Krishnanand D. Kumble, Lorena Alonso Díez, Alejandro Caro Pérez
Publikováno v:
Autoimmune Diseases
Autoimmune Diseases, Vol 2014 (2014)
Autoimmune Diseases, Vol 2014 (2014)
The performance of immunoassays for the detection of autoantibodies is of critical importance in the diagnosis and assessment of patients with autoimmune connective tissue diseases (ACTD). Our objective was to compare the features of two multiplexed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8df0f1bb991d0a49c3e90be97413c294
Publikováno v:
Medicina clinica. 141(3)
Pompe disease is a disorder originating from an acid alpha-glycosidase (AAG) enzyme deficiency. This disease produces an accumulation of lysosomal glycogen in different tissues, whereby the skeletal and heart muscles are especially involved. The esta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7c2ebbbd0d83402a461021fda8ac66ef
https://pubmed.ncbi.nlm.nih.gov/23756115
https://pubmed.ncbi.nlm.nih.gov/23756115
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 418
Background Pompe disease, or acid maltase deficiency, is a genetic muscle disorder caused by mutations in the gene encoding the acid alpha-glucosidase (GAA) enzyme, which is essential for the degradation of glycogen to glucose in lysosomes. The wide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dfb4ed1fe3ed33bca9910d3350cd7b4
https://pubmed.ncbi.nlm.nih.gov/23305799
https://pubmed.ncbi.nlm.nih.gov/23305799