Results 91 to 100 of about 41,808 (221)

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  

Can radiosensitivity associated with defects in DNA repair be overcome by mitochondrial-targeted antioxidant radioprotectors [PDF]

, 2014
Radiation oncologists have observed variation in normal tissue responses between patients in many instances with no apparent explanation. The association of clinical tissue radiosensitivity with specific genetic repair defects (Wegner's syndrome, Ataxia ...
Berhane, H, Bernard, M, Epperly, MW, Greenberger, JS, Rhieu, BH, Shinde, A, Skoda, EM, Wipf, P   +7 more
core   +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, Boffa, Jean-Jacques, Brocheriou, Isabelle, Devuyst, Olivier, Mihout, Fabrice, Mohebbi, Nilufar, Plaisier, Emmanuelle, Ridel, Christophe, Ronco, Pierre, Wagner, Carsten A.   +9 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, 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

De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies

Prenatal Diagnosis, Volume 46, Issue 4, Page 603-606, April 2026.
Nicole R. Legro, Lylach Haizler‐Cohen, William Genthe, Victoria Greenberg   +3 more
wiley   +1 more source

Modern Views on de Toni — Debre — Fanconi Syndrome: the Literature Data and Case Report

Zdorovʹe Rebenka, 2013
Introduction. In the article features of clinical course of de Toni — Debre — Fanconi disease (syndrome) in children of different age, depending on form of the disease are represented. The objective of investigation was to study clinical peculiarities of
I.S. Lembryk, S.I. Yakymiv, O.V. Lesyuk
doaj   +1 more source

Investigation of FANCA mutations in greek patients [PDF]

, 2013
Background: Fanconi anemia (FA) is a rare genetic disease characterized by considerable heterogeneity. Fifteen subtypes are currently recognised and deletions of the Fanconi anemia complementation group A (FANCA) gene account for more than 65% of FA ...
Fryssira, Elena, Kanavakis, Emmanouel, Kattamis, Antonis, Kitsiou, Sophia, Kolialexi, Aggeliki, Mavrou, Ariadni, Polychronopoulou, Sophia, Selenti, Nikoletta, Sofocleous, Christalena   +8 more
core  

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

Progressive myoclonic epilepsy with Fanconi syndrome

This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex ...
Andreoletti, Gaia, Clarke, Antonia, Ennis, Sarah, Gilbert, Rodney, Pengelly, Reuben, Seaby, Eleanor   +5 more
core   +1 more source