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Veterinary Ophthalmology|March 9, 2018
Immunohistochemical characterization of feline lymphoplasmacytic anterior uveitisLawrence Crossfield, Luca Fortuna, Rebekah Carling, et al.
Atherosclerosis|May 30, 2023
Long-term effects of volanesorsen on triglycerides and pancreatitis in patients with familial chylomicronaemia syndrome (FCS) in the UK Early Access to Medicines Scheme (EAMS)Alan Jones, Katherine Peers, Anthony S Wierzbicki, et al.
JIMD Reports|May 12, 2021
The natural history of glycogen storage disease type Ib in England: A multisite surveyRebecca Halligan, Fiona J White, Bernd Schwahn, et al.
JIMD Reports|September 6, 2021
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intakeEileen P Treacy, Sebastian Vencken, Annet M Bosch, et al.
Diabetes|September 30, 2020
Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin ResistanceTarekegn Geberhiwot, Shanat Baig, Cathy Obringer, et al.
Neurology and Therapy|November 10, 2025
Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical ObservationAndrew Cook, Beth Stuart, Antonio Ochoa-Ferraro, et al.
Orphanet Journal of Rare Diseases|September 21, 2018
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactionsHugh-Owen Colhoun, Estela M Rubio Gozalbo, Annet M Bosch, et al.
Metabolites|May 26, 2023
Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome-Causes, Clinical Presentation, and Therapeutic OptionsBilal Bashir, Jan H Ho, Paul Downie, et al.
Thorax|September 4, 2025
Spirometry thresholds for clinical trial eligibility: time for urgent re-evaluationIdan Bokobza, Melanie Le Sayec, Cara Bossley, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|September 5, 2024
Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National RegistryBilal Bashir, Paul Downie, Natalie Forrester, et al.
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