Results 161 to 170 of about 1,177,821 (205)
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Fanconi Anemia Syndrome

Archives of Otolaryngology - Head and Neck Surgery, 1970
The Fanconi anemia syndrome consists of multiple congenital anomalies and aplastic anemia. Diagnosis is made clinically and confirmed by chromosome analysis. This case represents an unusual occurrence in a 21-year-old woman with congenital middle ear disease.
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Pearson's Syndrome Presenting with Fanconi Syndrome

Ultrastructural Pathology, 1996
A case of Pearson's marrow-pancreas syndrome is presented. The dominant clinical feature was a generalized disorder of proximal tubule function with severe renal magnesium wasting. Renal and muscle biopsies were performed and showed bizarre giant mitochondria.
Rodney D. Gilbert   +3 more
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Paraquat‐induced Fanconi syndrome

Nephrology, 2005
SUMMARY:  The ingestion of paraquat, a non‐selective herbicide, can be fatal in humans. Paraquat is toxic to multiple organs, including the kidney, heart, gastrointestinal tract and central nervous system. Although paraquat has been established as one cause of acute tubular necrosis, Fanconi syndrome presenting as severe hypophosphataemia after ...
Hyo W, Gil   +3 more
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Kidney Transplantation in Fanconi Syndrome

New England Journal of Medicine, 1972
KIDNEY transplantation in children and adolescents with end-stage renal disease will provide information regarding the possibility of recurrence in the transplanted kidney of diseases unique to chi...
W A, Briggs   +3 more
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Spontaneous Fanconi syndrome in the dog

Metabolism, 1978
Three dogs with spontaneous renal tubular defects similar to idiopathic Fanconi syndrome are characterized. Renal clearance studies revealed a fractional reabsorption of glucose ranging from 31% to 82%. Abnormal glucose thulium values were present in all dogs.
K C, Bovée   +3 more
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Fanconi Syndrome

2009
Robert J. Desnick   +48 more
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The Cellular Basis of Fanconi Syndrome

Hospital Practice, 1993
In this syndrome, all solutes are prevented from crossing the apical membrane of the proximal renal tubule cell; hence, investigations have focused on generalized transport dysfunction, namely intracellular ATP activity. Experiments suggest that intracellular adenine nucleotide degradation secondary to phosphate depletion causes a decline in ATP.
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Fanconi Syndrome and Anesthesia

Anesthesiology, 1981
M, Joel, J K, Rosales
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Fanconi Syndrome

2012
Ron H. Rawlings   +15 more
  +4 more sources

BCS1L mutations produce Fanconi syndrome with developmental disability

Journal of Human Genetics, 2021
Hiroyuki Mishima   +2 more
exaly  

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