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Fanconi Syndrome

Known as: Fanconi's syndrome, nephropathic cystinosis, Fanconi Syndrome [Disease/Finding] 
A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is… 
National Institutes of Health

Related topics

Related topics

26 relations

Narrower (4)

Adult Fanconi syndromeDeal Barratt Dillon syndromeFanconi-Bickel SyndromePreeyasombat Varavithya syndrome

Broader (3)

Amino Acid Metabolism, Inborn ErrorsRenal tubular disorderSyndrome
Arthrogryposis renal dysfunction cholestasis syndromeCTNS geneCystineDe Toni-Debre-Fanconi Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2009
Review
2009
Monoubiquitylation in the Fanconi anemia DNA damage response pathway.
Highly Cited
1998
Highly Cited
1998
Long-term nephrotoxicity of cisplatin, ifosfamide, and methotrexate in osteosarcoma
Abstract. The acute renal effects of chemotherapy are known, but long-term nephrotoxicity has rarely been investigated. The aim… 
Highly Cited
1995
Highly Cited
1995
Therapeutic gene delivery in human B-lymphoblastoid cells by engineered non-transforming infectious Epstein–Barr virus
The B-lymphotrophic human herpes Epstein–Barr virus (EBV) is a 160-kilobase double-stranded DNA episomal virus carried in a… 
Review
1994
Review
1994
FANCONI'S ANAEMIA AND ITS VARIABILITY
Fig 1 . HPA-I genotyping by PCR-SSP. DNA from three patients were amplified as described by Metcalfe & Waters (1993). Patient 1… 
Highly Cited
1986
Highly Cited
1986
Amyloidosis in subcutaneous heroin abusers ("skin poppers' amyloidosis").
Highly Cited
1975
Highly Cited
1975
Caffeine inhibits cell transformation by 4-nitroquinoline-1-oxide
SOMATIC mutation has been considered a likely initiating step in chemical carcinogenesis1–3, chiefly because of the close… 
Highly Cited
1973
Highly Cited
1973
Early signs of cadmium intoxication in rabbits.
Highly Cited
1967
Highly Cited
1967
Bicarbonate reabsorption and hydrogen ion excretion in children with renal tubular acidosis.
Highly Cited
1963
Highly Cited
1963
An ultracentrifuge study of urine proteins with particular reference to the proteinuria of renal tubular disorders.
Review
1943
Review
1943
INTRACTABLE HYPOPHOSPHATEMIC RICKETS WITH RENAL GLYCOSURIA AND ACIDOSIS (THE FANCONI SYNDROME): REPORT OF A CASE IN WHICH INCREASED URINARY ORGANIC ACIDS WERE DETECTED AND IDENTIFIED, WITH A REVIEW…
Severe rickets of the familiar variety, due to dearth of sunlight or lack of proper food, has virtually disappeared from… 
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