Results 81 to 90 of about 31,105 (207)
Coronavirus disease 2019: acute Fanconi syndrome precedes acute kidney injury
, 2020 International audienceBackgroundRecent data have shown that severe acute respiratory syndrome coronavirus 2 can infect renal proximal tubular cells via Angiotensin Converting Enzyme 2 (ACE2) .
Gueant, Jean-Louis +13 more
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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
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
Renal tubular acidosis: A ‘basic’ disorder
Equine Veterinary Education, Volume 38, Issue 7, Page 365-366, July 2026.
H. J. Mason, L. G. Arroyo
wiley +1 more source
Fanconi Syndrome and Lactic Acidosis Associated with Stavudine and Lamivudine Therapy. AIDS.
, 2008 We report a case of the nucleoside reverse transcriptase inhibitors, stavudine and lamivudine inducing Fanconi syndrome in a patient. The presence of simultaneous lactic acidosis suggests mitochondrial toxicity within the proximal renal tubular cells as ...
Shah, Reena +4 more
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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
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets
, 2016 Fanconi-Bickel syndrome is a rare inherited disorder characterized by hepatorenal glycogen accumulation, renal tubular dysfunction, growth failure, and impaired utilization of glucose and galactose.
Afroze, Bushra, Chen, Margaret
core
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 +6 more
doaj +1 more source
Negligible urinary cysteamine loss in cystinosis patients with Fanconi syndrome.
, 2002 Cystinosis is an inborn error of lysosomal cystine transporter, resulting in cystine accumulation in lysosomes of all cells. Renal Fanconi syndrome is an early sign of kidney involvement in cystinosis patients.
Monnens, L.A.H. +3 more
core
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