Results 101 to 110 of about 31,105 (207)

Poster Sessions

open access: yes
HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Publication Only

open access: yes
HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

open access: yes, 2013
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]

open access: yesKidney Int Rep
Inoki Y   +24 more
europepmc   +1 more source

Fanconi's Syndrome [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1964
M I Lavelle, T Parkinson
openaire   +1 more source

Fanconi syndrome induced by zoledronic acid: Two case reports. [PDF]

open access: yesMedicine (Baltimore)
Chen Y   +5 more
europepmc   +1 more source

Adult Fanconi syndrom and liver cirrhosis

open access: yes, 1990
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]

open access: yesOxf Med Case Reports
Park J   +5 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy