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Journal of Clinical Lipidology|December 7, 2017
The UK Paediatric Familial Hypercholesterolaemia Register: Statin-related safety and 1-year growth dataSteve E Humphries, Jackie Cooper, Peter Dale, et al.
BMJ Case Reports|May 10, 2022
Early renal failure in childhood in a male with Fabry diseaseJosephine Norre Hogh, Hatim Ebrahim, Shabbir Moochhala, et al.
Pediatric Neurology|October 11, 2016
Relapsing Acute Axonal Neuropathy in Hereditary Fructose IntoleranceAnna Maitre, Anna Maw, Uma Ramaswami, et al.
Internal Medicine Journal|September 6, 2021
Impact of SARS-CoV-2 (COVID-19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centreUma Ramaswami, Simona D'Amore, Niamh Finnegan, et al.
Molecular Genetics and Metabolism|November 2, 2023
Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysisDaniel Linares, Beatriz Luna, Edson Loayza, et al.
Orphanet Journal of Rare Diseases|September 8, 2017
Fabry disease and incidence of cancerSarah Bird, Efthymios Hadjimichael, Atul Mehta, et al.
Journal of Clinical Medicine|October 13, 2021
Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the LiteratureSophie Thomas, Uma Ramaswami, Maureen Cleary, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 9, 2010
Assessment of renal pathology and dysfunction in children with Fabry diseaseUma Ramaswami, Behzad Najafian, Arrigo Schieppati, et al.
Clinical Therapeutics|November 21, 2020
Effects of Baseline Left Ventricular Hypertrophy and Decreased Renal Function on Cardiovascular and Renal Outcomes in Patients with Fabry Disease Treated with Agalsidase Alfa: A Fabry Outcome Survey StudySandro Feriozzi, Ales Linhart, Uma Ramaswami, et al.
The Journal of Obstetrics and Gynaecology Research|July 8, 2016
Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease)Philippa J Rohman, Elaine Scott, Linda Richfield, et al.
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