Results 21 to 30 of about 1,488 (116)

Abstract Book for the 27th Congress of the European Hematology Association

, 2022
HemaSphere, Volume 6, Issue S3, Page 1-4130, June 2022.
wiley   +1 more source

PB1971 STEPWISE APPROACH TO UNDIAGNOSED ANEMIA IN CHILDREN: A MODEL FOR LIMITED RESOURCES SETTINGS

HemaSphere, Volume 3, Issue S1, Page 895, June 2019., 2019
Background: Undiagnosed inherited anemia is a unique clinical entity in tertiary hematology centers. Reaching confirmed diagnosis is challenging and requires series of complex expensive investigations.The high prevalence of iron deficiency and thalassemia carriers makes the diagnosis of other classes of anemia more challenging.
M. Elalfy, S. Elhabashy, I. Ragab, N. Mowafy, M. Sallam, R. Russo, A. Iolascon, N. Hussein   +7 more
wiley   +1 more source

Enfermedad de Gaucher [PDF]

, 2015
La Enfermedad de Gaucher (EG) pertenece al grupo de las Enfermedades por Depósito Lisosomal (EDL), en las que existe un error en el metabolismo celular, de modo que hay déficit o se presenta un trastorno funcional de la enzima Glucocerebrosidasa.Como ...
Eusebio Ponce, Emiliana, García Frade, Luis Javier   +1 more
core   +1 more source

Abstracts

, 2021
Research and Practice in Thrombosis and Haemostasis, Volume 5, Issue S2, October 2021.
wiley   +1 more source

PB1972 RIBOCICLIB INDUCES MACROCYTOSIS IN THERAPEUTIC DOSES: CHARACTERIZATION OF OUTCOME

HemaSphere, Volume 3, Issue S1, Page 895-896, June 2019., 2019
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

Enfermedad de Gaucher, un abordaje terapéutico moderno

Repertorio de Medicina y Cirugía, 2001
La enfermedad de Gaucher es un trastorno del almacenamiento lisosomal o enfermedad de depósito, para la cual sólo había terapia paliativa hasta 1991.
María Helena Solano, Carlos Ramírez C., Lucía Parra, José Loboguerrero   +3 more
doaj   +1 more source

Necrosis avascular de cabeza femoral en pacientes con enfermedad de Gaucher tipo I : tratamiento mediante artroplastia total de cadera no cementada [PDF]

, 2017
El 80% de los pacientes con enfermedad de Gaucher presentan manifestaciones óseas, siendo la necrosis avascular de la cabeza femoral una de las que mayor limitación produce y la primera causa de intervención quirúrgica osteoarticular.
Blas Dobón, J.A., López Vega, Marcos, Pelayo de Tomás, José Manuel, Rodrigo Pérez, José Luís, Valero Fabado, H.   +4 more
core  

Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico

Journal of Clinical Laboratory Analysis, Volume 38, Issue 13-14, July 2024.
This study examines the frequency of two specific LIPA variants, rs1051338 and rs116928232, in 310 healthy Mexican mestizo individuals and the effects of these on protein structure by bioinformatic analysis. The results confirm the effects of this variants on LAL function and are consistent with existing data, underscoring the significance of this ...
Angélica Alejandra Hernández‐Orozco, Lennon Melendez‐Aranda, Sandra del Carmen Mendoza‐Ruvalcaba, Francisco Javier Perea‐Díaz, Jorge J. Cebolla, Pilar Giraldo, Aniel Jessica Leticia Brambila‐Tapia, José Elías García‐Ortíz   +7 more
wiley   +1 more source

Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously

Clinical Case Reports, Volume 6, Issue 5, Page 887-892, May 2018., 2018
Report a female diagnosed as type 1 Gaucher disease after a femoral pathologic fracture when she was 55 years old. Enzyme replacement therapy was started, and she achieved therapeutic goals. In 2015, a Ph’ CML with numerous pseudo‐Gaucher cells in bone marrow appears. BCR/ABL was not present at GD diagnosis.
MSoledad Noya, Marcio Andrade‐Campos, Pilar Irun, Laura López de Frutos, MFernanda López‐Fernandez, Pilar Giraldo   +5 more
wiley   +1 more source

Histopathological findings in renal biopsies in Anderson–Fabry disease. Case series

Revista Médica del Hospital General de México, 2018
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, M.V. Soto Abraham, M.Y. Valdespino Vázquez, B. de León Garza   +3 more
doaj   +1 more source