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Molecular Genetics and Metabolism|September 12, 2016
Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher diseaseDeborah Elstein, T Andrew Burrow, Joel Charrow, et al.
American Journal of Medical Genetics. Part A|March 11, 2006
Non-lethal congenital hypotonia due to glycogen storage disease type IVT Andrew Burrow, Robert J Hopkin, Kevin E Bove, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic VariantsYutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
American Journal of Medical Genetics. Part A|August 16, 2022
Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegalyWilliam B Hannah, Katherine Ryan, Surekha Pendyal, et al.
Molecular Genetics and Metabolism|June 26, 2012
Recurrent pancreatitis in ornithine transcarbamylase deficiencyCarlos E Prada, Ajay Kaul, Robert J Hopkin, et al.
Molecular Genetics and Metabolism Reports|October 11, 2016
Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trialRebecca Pleat, Timothy M Cox, T Andrew Burrow, et al.
Molecular Genetics and Metabolism|April 3, 2022
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?Neal J Weinreb, Ozlem Goker-Alpan, Priya S Kishnani, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Molecular Genetics and Metabolism|February 16, 2023
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resourceRebecca L Koch, Claudia Soler-Alfonso, Bridget T Kiely, et al.
Hormone Research in Paediatrics|January 8, 2026
Longitudinal Observation of Children With Achondroplasia: Findings From a Global Natural History Study (ACHieve)Ciara McDonnell, Hanne Buciek Hove, Melita Irving, et al.
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