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List of works by Carla Hollak

A monozygotic twin pair with highly discordant Gaucher phenotypes ⬇️

scientific article published on November 5, 2010

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance ⬇️

scientific article published on 06 August 2013

An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease ⬇️

scientific article published on May 4, 2012

Clinical impact of the worldwide shortage of verteporfin (Visudyne®) on ophthalmic care

scientific article published in 2022

Clinical pathways for inborn errors of metabolism: warranted and feasible ⬇️

scientific article published on February 25, 2013

Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease ⬇️

scientific article published on 04 May 2011

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

scientific article

Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study ⬇️

scientific article published on August 7, 2010

Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase ⬇️

scientific article published on January 21, 2011

Pulmonary arterial hypertension with plexogenic arteriopathy in enzyme‐substituted Gaucher disease ⬇️

scientific article published on June 13, 2012

Registries for orphan drugs: generating evidence or marketing tools?

scientific article published on 03 September 2020

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