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Orphanet Journal of Rare Diseases|May 22, 2015
Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3)Neal J Weinreb, David N Finegold, Eleanor Feingold, et al.
Ophthalmology Science|July 15, 2025
Genotype Prediction from Retinal Fundus Images Using Deep Learning in Eyes with Age-Related Macular DegenerationAvishai Halev, Denis Huang, Shahbaz Rezaei, et al.
Drug Design, Development and Therapy|June 17, 2016
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapyOzlem Goker-Alpan, Nicola Longo, Marie McDonald, et al.
American Journal of Ophthalmology Case Reports|March 6, 2018
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological featuresRossana L Sanchez, Jiong Yan, Sarah Richards, et al.
Molecular Genetics & Genomic Medicine|August 5, 2022
Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicismRuchi Punatar, Alena Egense, Rong Mao, et al.
International Ophthalmology Clinics|March 23, 2026
Congenital Optic Nerve Anomalies and Associated Systemic ConditionsAnjalee Chopra, Iftee Shahriar, Arina Nisanova, et al.
Ophthalmic Genetics|October 6, 2021
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during developmentSuma P Shankar, Reshmitha Fallurin, Tonya Watson, et al.
Pediatric Blood & Cancer|May 1, 2019
Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old femaleBrian P Tullius, Suma P Shankar, Stacey Cole, et al.
Blood Cells, Molecules & Diseases|November 15, 2016
Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome surveyHeather Lau, Nadia Belmatoug, Patrick Deegan, et al.
JIMD Reports|March 31, 2015
Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase AlfaOzlem Goker-Alpan, Khan Nedd, Suma P Shankar, et al.
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