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The Journal of Clinical Endocrinology and Metabolism|June 13, 2025
Defining puberty and spectrum of hypogonadism in Alström SyndromeSadaf Ali, Qianwen Zhang, Ijeoma Anwunah, et al.Atherosclerosis|March 6, 2024
Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)Bilal Bashir, See Kwok, Anthony S Wierzbicki, et al.Nutrients|November 3, 2020
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UKAlex Pinto, Catherine Ashmore, Spyros Batzios, et al.Orphanet Journal of Rare Diseases|February 15, 2022
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, et al.Journal of Medicinal Chemistry|April 9, 2026
Identification of DC-174 as a Novel Hydroxamic Precandidate for the Development of an Oral Snakebite TreatmentDaniel J W Chong, Laura-Oana Albulescu, Adam Westhorpe, et al.Proceedings of the National Academy of Sciences of the United States of America|November 11, 2025
MC1R determines healing outcomes in acute and chronic cutaneous woundsYonlada Nawilaijaroen, Holly R Rocliffe, Shani Austin-Williams, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 12, 2018
Defining renal phenotype in Alström syndromeShanat Baig, Richard Paisey, Charlotte Dawson, et al.Orphanet Journal of Rare Diseases|April 18, 2023
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, et al.Nutrients|October 17, 2019
Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary AdherenceBenjamin Green, Robert Browne, Sarah Firman, et al.Orphanet Journal of Rare Diseases|September 22, 2020
Consensus clinical management guidelines for Alström syndromeNatascia Tahani, Pietro Maffei, Hélène Dollfus, et al.Pageof 8