Sandra Sirrs

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 280 citations · Full text

Life Sciences, Bioinformatics, Genetics +12

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta et al. · Molecular Genetics and Metabolism · 2014 · 269 citations

Medicine, Biochemistry, Molecular Medicine +8

Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy

Pramod K. Mistry, Sandra Sirrs, Alicia Chan et al. · Molecular Genetics and Metabolism · 2002 · 176 citations

Life Sciences, Genetics, Molecular Genetics +11

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study

Maarten Arends, Marieke Biegstraaten, Christoph Wanner et al. · Journal of Medical Genetics · 2018 · 125 citations · Full text

Life Sciences, Cardiology, Pharmacotherapy +14

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

Christiane Auray‐Blais, Aimé Ntwari, Joe T.R. Clarke et al. · Clinica Chimica Acta · 2010 · 100 citations

Pharmacy, Biochemistry, Molecular Medicine +10