Results 121 to 130 of about 2,262,684 (231)

BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature. [PDF]

open access: yes, 2019
BackgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in "novel" genes as conferring an increased risk of ...
Ali, Mir   +2 more
core  

Hematopoietic Cell Transplantation for Acute Leukemia and Advanced Myelodysplastic Syndrome in Fanconi Anemia [PDF]

open access: hybrid, 2013
Richard N. Mitchell   +3 more
openalex   +1 more source

Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis [PDF]

open access: yes, 2017
Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage ...
Antignac, Corinne   +5 more
core  

Euglycemic diabetic ketoacidosis and a probable Fanconi syndrome secondary to dapagliflozin: a case report

open access: yesMedicina Universitaria
Sodium-glucose cotransporter-2 (SGLT-2) inhibitors are therapeutic agents used to treat hyperglycemia in patients with type 2 diabetes. Since their approval, cases of euglycemic diabetic ketoacidosis (DKA) have been reported with empagliflozin ...
Luis E. Fernández-Garza   +3 more
doaj   +1 more source

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