Results 161 to 170 of about 3,192 (225)

Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience. [PDF]

open access: yesRen Fail
Battaglia Y   +14 more
europepmc   +1 more source

Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction. [PDF]

open access: yesMol Genet Metab Rep
Inagaki N   +11 more
europepmc   +1 more source

Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study. [PDF]

open access: yesGenet Med Open
Laney DA   +12 more
europepmc   +1 more source

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome [PDF]

open access: yes
Amir Hossein Saeidian   +19 more
core   +1 more source

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