Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
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Recurrent Acute Pancreatitis Secondary to Untreated Hyperparathyroidism: A Case Report and Literature Review. [PDF]
Patoni C, Popescu SI, Gheorghe C.
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Reprogramming macrophage mechanosensation via TRPV4 modulating mechano-immunotherapy controls fibrotic encapsulation of biomaterial implants. [PDF]
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Bone mineral density and bone turnover in adolescent girls with anorexia nervosa: a 3-year retrospective cohort study. [PDF]
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