Type I glycogenosis with renal tubular dysfunction (presentation of two cases)
The Turkish Journal of Pediatrics, 1993 Two patients with hepatic glycogenosis associated with Fanconi syndrome are presented. Both patients were treated with a neutral phosphorus solution, an oral alkaline solution, cholecalciferol and uncooked cornstarch.
A Yüce +5 more
doaj
Haematologica, 2009 Fanconi anemia is a severe bone marrow failure syndrome resulting from inactivating mutations of Fanconi anemia pathway genes. Gene and cell therapy trials using hematopoietic stem cells and progenitors have been hampered by poor mobilization of HSC to ...
Michael D. Milsom +3 more
doaj +1 more source
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights [PDF]
, 2017 Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by mutations in the SLC2A2 gene coding for the glucose transporter protein 2 (GLUT2).
Bensman, Albert +9 more
core
Journal of Veterinary Medical Science, 2017 Renal Fanconi syndrome has recently been associated with the ingestion of pet jerky treats from China in mostly small breed dogs in North America, Australia and Europe.
A. Yabuki +5 more
semanticscholar +1 more source
Physiology of renal glucose handling via SGLT1, SGLT2 and GLUT2. [PDF]
, 2018 The concentration of glucose in plasma is held within narrow limits (4-10 mmol/l), primarily to ensure fuel supply to the brain. Kidneys play a role in glucose homeostasis in the body by ensuring that glucose is not lost in the urine.
Ghezzi, Chiara +2 more
core
Chromosomal instability syndromes are sensitive to poly ADP-ribose polymerase inhibitors
Haematologica, 2008 Poly ADP-ribose polymerase inhibitors have been shown to target cells with homologous recombination DNA repair defects. We report that poly ADP-ribose polymerase inhibitors induces apoptosis in cells deficient in other key DNA repair components ...
Terry J. Gaymes +3 more
doaj +1 more source
Consensus of German Transplant Centers on Hematopoietic Stem Cell Transplantation in Fanconi Anemia [PDF]
, 2015 Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the only curative therapy for the severe hematopoietic complications associated with Fanconi anemia (FA). In Germany, it is estimated that 10–15 transplants are performed annually for
Bader, P. +20 more
core +1 more source
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome
The Turkish Journal of Pediatrics, 2009 Fanconi-Bickel syndrome is a rare inherited disorder of carbohydrate metabolism. The disease is characterized by the association of a massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets and marked growth retardation ...
Enver Simşek +4 more
doaj
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia [PDF]
, 2019 BRCA2 (also known as FANCD1) is a core component of the Fanconi pathway and suppresses transformation of immature T-cells in mice. However, the contribution of Fanconi-BRCA pathway deficiency to human T-cell acute lymphoblastic leukemia (T-ALL) remains ...
Burns, Melissa A +21 more
core +3 more sources
WES Reveals Novel Heterozygous NBAS Gene Mutations Associated with Fanconi Syndrome in a Patient with SOPH Syndrome: Case Report [PDF]
, 2021 Thong JY +5 more
openalex +1 more source