PUBLICATIONS & EXPERT INSIGHTS

Publications

"Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?"

February 2022

Hughes DA et al. Orphanet J Rare Dis 2022; 17: 42

Publications

"Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China"

December 2021

Shen Q et al. Orphanet J Rare Dis 2021; 16: 509

Publications

"A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm"

December 2021

Jefferies JL et al. Orphanet J Rare Dis 2021; 16: 518

Publications

"Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease"

December 2021

Germain DP et al. Clin Genet 2021; Epub ahead of print

Publications

"Reduced global longitudinal strain as a marker for early detection of Fabry cardiomyopathy"

September 2021

Lu DY, et al. Eur Heart J Cardiovasc Imaging 2021: 00; 1-9

Publications

"The impact of demographic and clinical characteristics on the trajectories of health‑related quality of life among patients with Fabry disease"

October 2021

Sigurdardottir S, et al. Orphanet J Rare Dis 2021: 16; 427

Publications

"Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease"

September 2021

Shiga T, et al. Mol Genet Metab Rep 2021: 29; 100804

Publications

"Clinical outcomes of people with Fabry Disease - ANZDATA Registry Study"

June 2021

Ng MS et al. Kidney International Rep 2021; 6: 2481-2485

Publications

"Attention Deficits and ADHD Symptoms in Adults with Fabry Disease — A Pilot Investigation"

June 2021

Ali N et al. J Clin Med. 2021, 10, 3367

Publications

"Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing"

June 2021

Domm JM et al. Mol Genet Metab 2021; S1096-7192(21)00757-5

Publications

"Increased serum interleukin-6 and tumor necrosis factor alpha levels in Fabry disease: Correlation with disease burden"

June 2021

Rosa Neto NS et al. Clinics 2021; Epub ahead of print

Publications

"Prompt agalsidase alfa therapy initiation is associated with improved renal and cardiovascular outcomes in a Fabry Outcome Survey analysis"

August 2021

Hughes D et al. Drug Des Dev Ther 2021; 15: 3561-3572

Publications

"Newborn screening for Fabry disease in Northeastern Italy: results of five years of experience"

June 2021

Gragnaniello V et al. Biomolecules 2021; 11: 951

Publications

"Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: a qualitative study"

June 2021

Lisi EC, Ali N. J Genet Couns 2021; Epub ahead of print

Publications

"Development of the Fabry Disease Patient‑Reported Outcome (FD‑PRO): a new instrument to measure the symptoms and impacts of Fabry disease"

June 2021

Hamed A et al. Orphanet J Rare Dis 2021; 16: 285

Publications

"High prevalence of late-onset Fabry cardiomyopathy in a cohort of 499 non-selective patients with left ventricular hypertrophy "

May 2021

Fan Y et al. J Clin Med 2021; 10: 2160

Publications

"FABry Disease Patient-Reported Outcome-Gastrointestinal (FABPRO-GI): A new Fabry disease-specific gastrointestinal outcomes instrument"

April 2021

Shields AL et al. Qual Life Res 2021; Epub ahead of print

Publications

"Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task"

April 2021

Sodŕe LSS et al. J Bras Nefrol 2021; 43: 28-33

Publications

"Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus"

February 2021

Moreno-Martinez D et al. Mol Genet Metab 2021; 132: 234-243

Publications

“The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease”

March 2021

Germain DP et al. Mol Genet Genomic Med 2021; e1666

Publications

"Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease"

January 2021

Nowak et al. Med Genet 2021; Epub ahead of print

Publications

"Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease"

February 2021

El Sayed M et al. Heart 2021; Epub ahead of print

Publications

"A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide"

January 2021

Mehta A et al. Orphanet J Rare Dis 2021; 16: 8

Publications

"Accuracy diagnosis improvement of Fabry disease from dried blood spots: enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing"

February 2021

Delarosa-Rodríguez et al. Clin Genet 2021; Epub ahead of print

Publications

Urinary mulberry bodies as a potential biomarker for Fabry disease nephropathy

December 2020

Yonishi H et al. Nephrol Dial Transplant 2020; Epub ahead of print

Publications

The patient journey to Fabry disease

December 2020

Mengel E et al. PLoS One 2020; 15: e0244279

Publications

Screening for Fabry disease in young stroke adults in the Australian Stroke Clinical Registry

November 2020

Malavera A et al. Front Neurol 2020; 11: 596420