Results 91 to 100 of about 31,105 (207)

Hepatocellular Carcinoma in Fanconi-Bickel Syndrome

, 2017
Fanconi-Bickel syndrome is a rare autosomal recessive disorder due to mutations in the facilitative glucose transporter 2 ( GLUT2 or SLC2A2) gene resulting in excessive glycogen storage predominantly in the liver and kidney. Previous case reports of this
Allison F O’Neill, Stephan D Voss, Jennifer Pogoriler, Antonio R Perez-Atayde, Robert C Shamberger   +4 more
core   +1 more source

Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance

, 2007
Renal Fanconi syndrome developed rapidly in a 3-year-old Moroccan girl with established lysinuric protein intolerance. She was hospitalized because of lowered consciousness, uncoordinated movements and hepatosplenomegaly after a febrile period ...
Duran, M., M. Duran, M. A. Benninga, B. T. Poll-The, Versteegh, F. G. A., de Koning, T. J., R. Goldschmeding, Lilien, M., F. G. A. Versteegh, Goldschmeding, R., Benninga, M. A., Poll-The, B. T., M. Lilien, T. J. de Koning   +13 more
core   +1 more source

Mesenchymal tumor-induced Fanconi syndrome: A novel classification of Fanconi syndrome

Medicine
Rationale: Fanconi syndrome (FS) caused by mesenchymal tumors is rarely reported, and these tumors are usually small and difficult to detect. However, if found and removed, the FS can be cured. Patient concerns: Five patients were ...
Menghua Yuan, Baoping Wang, Hongzhi Li, Jin Cui, Kunling Wang, Fangqiu Zheng, Zhongshu Ma, Qing He, Ming Liu   +8 more
openaire   +2 more sources

Episphalosomic Syndrome : A Mca Syndrome Ressembling Fanconi Anemia, with Increased Baseline Level of Chromosome Breaks but No Hypersensivity to Clastogens

, 2001
peer reviewedWe describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia.
Herens, Christian, Dideberg, Vinciane, JAMAR, Mauricette, Alain Verloes, Christian Herens, Vinciane Dideberg, Verloes, Alain, Mauricette Jamar   +7 more
core   +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

Repurposing SGLT2 inhibitors:Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin [PDF]

Renal proximal tubulopathy in Fanconi-Bickel syndrome is caused by impaired basolateral glucose transport via GLUT2 and consequently, intracellular accumulation of glucose and glycogen.
Besouw, Martine T.P., Schreuder, Andrea B., Derks, Terry G. J., Woidy, Mathias, Groen, Joost, Overduin, Ruben J., Murko, Simona, Grünert, Sarah, Santer, René, Bolhuis, Mathieu S., Groen, Joost; id_orcid, Besouw, Martine T. P., Grünert, Sarah C., Derks, Terry G.J.; id_orcid   +13 more
core   +1 more source

Fanconi\u27s syndrome and nephrogenic diabetes insipidus in an adult treated with ifosfamide

, 2012
Fanconi\u27s syndrome is a serious condition characterized by type II proximal renal tubular dysfunction, with urinary loss of glucose, amino acids, phosphate, bicarbonate, and potassium.
Charpentier, Margaret, Peguero, Anyeri, Ingemi, Amanda I., Bota, M.   +3 more
core   +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

Plenary Abstracts Session & Oral Presentations

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Transient Neonatal Diabetes with Fanconi Bickel Syndrome

, 2017
Fanconi- Bickel Syndrome (FBS) is a rare glycogen storage disease (GSD) . Transient diabetes is rarely reported with FBS. We describe a patient with FBS diagnosed by diabetes findings and identification of a mutation in the GLUT2.
Cengiz Kara, Derya Tepe, Gulay Can Yilmaz, Murat Aydin, Elif Ozsu   +4 more
core   +1 more source