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Fanconi syndrome

Fanconi Renotubular SyndromeDe Toni-Fanconi syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Fanconi syndrome" returned 12 free, full-text review articles. First few results:
Fanconi Syndrome.
Last Updated: Jan 29, 2019

Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis. Often there is hypokalemia, sodium wasting, and dehydration. ...

TINU-associated Fanconi syndrome: a case report and review of literature.
Last Updated: Sep 03, 2019

Tubulo-interstitial Nephritis and Uveitis (TINU) syndrome is a rare oculo-renal inflammatory disease. Renal tubular defects are usually found, but full proximal tubular abnormalities have rarely been described.

Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia.
Last Updated: Oct 08, 2019

Fanconi anemia (FA) is a DNA repair disorder associated with a high risk of cancer and bone marrow failure. Patients with FA may present with certain dysmorphic features, such as radial ray abnormalities, short stature, typical facies, bone marrow failure, or certain solid malignancies. ...

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12 Free Review Articles 30 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Fanconi syndrome" returned 2 free, full-text editorial articles. First 2 results:
Full PubMed Editorials matches at NCBI:
2 Free Editorials 4 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Fanconi syndrome" returned 125 free, full-text research articles. First few results:
Denosumab improves clinical manifestations of hypophosphatemic osteomalacia by adefovir-induced Fanconi syndrome: a case report.
Last Updated: Feb 25, 2020

Adefovir dipivoxil is a nucleotide analogue that is approved for treatment of chronic hepatitis B. Adefovir dipivoxil is associated with proximal tubular dysfunction, resulting in Fanconi syndrome, which can cause secondary hypophosphatemic osteomalacia. We describe a case of a patient ...

[Marked improvement in renal tubular markers after switching from adefovir to tenofovir alafenamide in a case of Fanconi syndrome diagnosed through high ALP levels].
Last Updated: Jul 30, 2019

A woman in her 60s visited our hospital due to elevation of ALP (1357U/L). The patient had been treated with lamivudine (LAM) in 2005, LAM+adefovir (ADV) in 2009, and ADV+entecavir in 2015 for chronic hepatitis B (CH-B). The ALP isozyme was predominantly bone type. Urinary β-2 microglobulin ...

Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
Last Updated: Mar 17, 2020

Deleterious variants in SLC2A2 cause Fanconi-Bickel Syndrome (FBS), a glycogen storage disorder, whereas less common variants in SLC2A2 associate with numerous metabolic diseases. Phenotypic heterogeneity in FBS has been observed, but its causes remain unknown. Our goal was to functionally ...

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125 Free Research Articles 420 Research Articles