Results 41 to 50 of about 29,515 (111)

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, T Coşkun, N Koçak, S Ozsoylu, I Ozalp, S Göğüş   +5 more
doaj  

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, Senay Savaş-Erdeve, Osamu Sakamoto, Tümay Doğanci, Yildiz Dallar   +4 more
doaj  

Fanca−/− hematopoietic stem cells demonstrate a mobilization defect which can be overcome by administration of the Rac inhibitor NSC23766

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, Andrew W. Lee, Yi Zheng, Jose A. Cancelas   +3 more
doaj   +1 more source

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, Sydney Shall, Farzin Farzaneh, Ghulam J. Mufti   +3 more
doaj   +1 more source

A rare case of glycogen storage disease type XI fanconi-bickel syndrome

Journal of Pediatric Critical Care, 2016
Fanconi-Bickel syndrome (FBS) is an example of proximal Renal tubular dysfunction due to a single gene disorder, it is caused by defects in the facilitative glucose transporter 2 gene that codes for the glucose transporter protein 2 expressed in ...
Manisha Garg, Ashok Gupta, Priyanshu Mathur, Manish Sharma, Rajesh Kumar, Vikas Gupta, M Manjunath   +6 more
doaj   +1 more source

Fanconi syndrome and renal tubular necrosis in patients following ingestion of potentially contaminated red yeast rice supplement: Two case reports

Physiological Reports
We present two cases of middle‐aged men who developed Fanconi syndrome and renal dysfunction after consuming “foods with functional claims (FFC)” containing red yeast rice.
Yoshiyuki Yoshikawa, Hitoshi Anzai, Kohei Odajima, Shinichiro Asakawa, Shigeyuki Arai, Osamu Yamazaki, Yoshifuru Tamura, Ryuji Ohashi, Shigeru Shibata, Yoshihide Fujigaki   +9 more
doaj   +1 more source

Acquired Fanconi-like proximal renal tubulopathy associated with Klebsiella pneumoniae infection

European Journal of Case Reports in Internal Medicine
Acquired Fanconi syndrome is a rare proximal renal tubular disorder associated with glucosuria, aminoaciduria, phosphaturia, electrolyte disturbance and metabolic acidosis, usually caused by drugs, toxins, or plasma cell disorders.
Shilpa Suthanthararajan, Margrat Das, Thasneem Ara, Vinoth Kumar, Sujan Vishwanath   +4 more
doaj   +1 more source

Fanconi syndrome due to prolonged use of low-dose adefovir

Journal of Research in Medical Sciences, 2015
Fanconi syndrome results from a generalized abnormality of the proximal tubules of the kidney and owing to phosphate depletion can cause hypophosphatemic osteomalacia.
Xiao-Bing Wang, Xiao-Chun Zhu, Xiao-Ying Huang, Wen-Jing Ye, Liang-Xing Wang   +4 more
doaj  

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

Medicina 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, Daniela Mares-Custodio, Juan J. Arias Alzate, Renata P. Nomura-Quiroz   +3 more
doaj   +1 more source

Genetic Screening of Patients With Inherited Fanconi Syndrome. [PDF]

Kidney Int Rep
Inoki Y, Sakakibara N, Yamamoto A, Kimura Y, Aoyama S, Kondo A, Hanafusa H, Horinouchi T, Yamamura T, Nagano C, Ishimori S, Asato S, Fukuda A, Hashimoto S, Murase T, Nagatani K, Nakaya I, Okamoto T, Takayanagi S, Tanaka H, Tsugawa K, Tsukamoto T, Yamada T, Yamamoto M, Nozu K.   +24 more
europepmc   +1 more source