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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease fanconi syndrome
Comorbidity C0035579|rickets
Sentences 4
PubMedID- 24386581 In conclusion, we report a 10-year-old female with hypophosphatemic rickets due to de toni-debré-fanconi syndrome secondary to mitochondrial respiratory chain complex i deficiency, who had excellent bone healing of rickets and improvement of her valgus deformity despite late proper medical intervention.
PubMedID- 23565442 Thus a diagnosis of short stature and refractory rickets due to fanconi's syndrome secondary to wilson's disease was made.
PubMedID- 20946626 There is considerable inter- and intra-familial variability in the other manifestations of pt dysfunction, which may cause a renal fanconi syndrome with hypophosphataemic rickets, as well as in the extent of nephrocalcinosis/nephrolithiasis.
PubMedID- 25954677 We report a seven-year-old boy with nephropathic cystinosis who presented with all the cardinal features of renal fanconi syndrome associated with rickets, pathological fractures, stage iv chronic kidney disease (ckd) and hypothyroidism.

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