Results 21 to 30 of about 132 (82)
Xantomatosis. Xanthomas of the stomach
Experimental and Clinical Gastroenterology, 2021 The article presents some information about xanthomatosis, as well as about xanthomas of the stomach, which are benign formations, but their etiopathogenesis is unknown. Some believe that there is a relationship between xanthomas of the stomach and hyperlipidymia, diabetes, preneoplastic changes in the mucous membrane, age-related features of the ...
O. B. Dronova +4 more
openaire +2 more sources
Absceso hepático por colecistitis xantogranulomatosa y ademiomatosis vesicular: reporte de un caso.
Acta Médica Peruana, 2021 La colecistitis xantogranulomatosa (CXG) y la Adenomiomatosis (AV) son infrecuentes, con escasos reportes en nuestro medio. La diferenciación preoperatoria e intraoperatoria es difícil, porque presenta características radiológicas y macroscópicas ...
Angel F. Vera-Portilla +3 more
doaj +1 more source
CRÓNICAS DE ACTIVIDADES CIENTÍFICAS: Un caso de xantomatosis visceral [PDF]
Anales de medicina y cirugía, 1947 Gallart Monés, Francesc +1 more
openaire +2 more sources
Autism: Screening of inborn errors of metabolism and unexpected results [PDF]
, 2021 In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM, data of the hospital records of
Aslı İnci +15 more
core +1 more source
Nota clínica: Trastorno bipolar en xantomatosis cerebrotendinosa: a propósito de un caso [PDF]
, 2021 La xantomatosis cerebrotendinosa (XCT) es una rara enfermedad autosómica recesiva que puede cursar con manifestaciones psiquiátricas cuyo tratamiento puede resultar complejo.
Iza, Miren +5 more
core
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease [PDF]
, 2016 Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive disorder of lipid storage caused by mutations in the CYP27A1 gene, coding for a sterol 27-hydroxylase, leading to increased deposition of cholesterol in multiple tissues. CTX is characterized
MANDRIOLI, Jessica +5 more
core +1 more source
Errores del metabolismo lipídico en Asturias. 1996 - 2008 [PDF]
, 2014 Antecedentes/Objetivos: Uno de los objetivos de la Estrategias Nacionales de Salud del SNS en Enfermedades Raras (ER) aborda la información sobre ER donde se pretende apoyar actuaciones estratégicas que permitan mejorar la información que mejoren la ...
Pedro Margolles (594194) +3 more
core +1 more source
Xantomatosis cerebrotendinosa en edad pediátrica: diagnóstico precoz a propósito de dos casos
Anales De PediatríaJosé Luis Aparicio Sánchez +4 more
exaly +2 more sources
, 2022 ABSTRACT: A forty-two year-old patient with convulsive syndrome, cataracts, mental retardation, inferior spastic paraparesia, tendinous xanthoma, consanguinity on their parents, and siblings with similar affection is presented. He had normal lipid profile, atrophy cerebellar and a skin biopsy with xanthomas. A cerebrotendinous xanthomatosis diagnostic
Vargas, Andrea +2 more
openaire +1 more source
Xantelasma gástrico y Helicobacter pylori. Reporte de un caso y revisión de la literatura
Medisur, 2013 Se presenta el caso de una paciente de 40 años con xantelasma gástrico asociado a Helicobacter pylori, asociación infrecuente en la literatura médica. Se resalta la rareza de esta entidad, las manifestaciones clínicas, el diagnóstico, la terapéutica y la
Rafael Pila Pérez +3 more
doaj +2 more sources