Results 101 to 110 of about 31,105 (207)
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and
Sian Ellard (25182) +13 more
core
Genetic Screening of Patients With Inherited Fanconi Syndrome. [PDF]
Inoki Y +24 more
europepmc +1 more source
Fanconi syndrome induced by zoledronic acid: Two case reports. [PDF]
Chen Y +5 more
europepmc +1 more source
Adult Fanconi syndrom and liver cirrhosis
A female presenting primary adult Fanconi syndrome and liver cirrhosis of obscure aetiology is described. The only other report of this association appeared over four decades ago and concerned a male patient who, however, was subsequently diagnosed as ...
NARDONE, GERARDO ANTONIO PIO +4 more
core +1 more source
Tenofovir-induced Fanconi syndrome: a case report and literature review. [PDF]
Park J +5 more
europepmc +1 more source
Hypophosphatemic Osteomalacia Induced by Low-Dose Adefovir-Related Fanconi Syndrome. [PDF]
Kim D.
europepmc +1 more source

