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American Journal of Human Genetics|July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe CasesYoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.Brain : a Journal of Neurology|August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2022
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaireSarah C Grünert, Terry G J Derks, Katarina Adrian, et al.Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.Pageof 7