Results 41 to 50 of about 61,856,371 (158)
PB1972 RIBOCICLIB INDUCES MACROCYTOSIS IN THERAPEUTIC DOSES: CHARACTERIZATION OF OUTCOME
Background: Ribociclib is a small molecule that selectively inhibits cyclin‐dependent kinases 4 and 6, blocking the phosphorylation of retinoblastoma protein and inducing of G1 phase arrest hence having an important role in the regulation and prevention of cell‐cycle progression.
S. Alves, S. Alves
wiley +1 more source
Histopathological findings in renal biopsies in Anderson–Fabry disease. Case series
Anderson–Fabry disease is the second most common lysosomal storage disease after Gaucher disease. It is an X-linked lysosomal disorder that causes a deficiency in alpha-galactosidase, leading to the accumulation of globotriaosylceramide (Gb3) in the ...
A.L. Mena Rodríguez +3 more
doaj +1 more source
Enfermedad de gaucher: Gaucher disease [PDF]
Gaucher's disease (GD), an autosomal recessive disease, is the most frequent of the group of lysosomal storage diseases. The symptoms and signs are multisystemic, are established chronically and progressively and are due to the accumulation of ...
Mendoza-Quispe, Magaly
core
A de novo approach to synthesize d‐bradyrhizose diastereomers from an achiral ketoenolester is presented. The strategy uses transfer hydrogenation, an Achmatowicz rearrangement and alkene oxidations as key steps in the synthesis. The effect of the configuration at C‐2, C‐4 and C‐9 on the isomeric composition of the reducing sugars in water was analyzed
Vitor L. S. Cunha +2 more
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La enfermedad de Gaucher es un trastorno metabólico autosómico recesivo crónico y progresivo que se caracteriza por depósito lisosomal con deficiencia de la enzima glucocerebrosidasa ácida produciendo causando daño celular y disfunción orgánica; se ...
Junior J. Zapata +3 more
doaj +1 more source
Enfermedades Raras en Asturias. Dirección General de Salud Pública y Participación. Informes breves 12Gaucher disease is a disease gene described by Gaucher characterized by a deficit glucocerebrosidase enzyme is an enzyme involved in the lysosomal ...
Paredes, Lucía, López, Juan Antonio
core
Diseases in Bolivia: Past, Present and Future Ethnoepidemiology Problems
En el desarrollo histórico de la medicina fueron primero observaciones aisladas las que permitieron establecer cuadros nosológicos bien definidos. Este es el caso de la enfermedad de Gaucher, descrita por este autor en 1882, sin embargo más adelante ...
Luis Hurtado Gómez
doaj +1 more source
Imiglucerasa en pacients amb malaltia de Gaucher tipus III [PDF]
Malaltia de Gaucher; Imiglucerasa; Assaigs clínics; Gaucher Disease; Imiglucerase; Clinical Trial; Enfermedad de Gaucher; Imiglucerasa; Ensayo ClínicoLa malaltia de Gaucher tipus III és una forma neuronopàtica de la malaltia de Gaucher amb símptomes ...
Comitè d’Avaluació de Medicaments d’Ús Hospitalari (CAMUH)
core
Características de los pacientes colombianos con enfermedad de Gaucher.
Introducción. La EG es una enfermedad de depósito lisosomal causada por la deficiencia de la enzima β-glucosidasa con la consecuente acumulación de productos de degradación intracelular y daño celular. La clínica en los niños es: esplenomegalia, anemia, trombocitopenia, dolores óseos, retardo en el crecimiento.
I. C. Sarmiento +5 more
openaire +2 more sources
Abstract Book: 25th Congress of the European Hematology Association Virtual Edition, 2020
HemaSphere, Volume 4, Issue S1, Page 1-1168, June 2020.
wiley +1 more source

