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Phenotypically, patients can be further classified into having GSD type IIIa (85%), with involvement of the liver, heart, and skeletal muscle, or GSDIIIb (15%), in which only the liver is affected ( The other forms of hepatic GSDs type IV, VI, IXa, IXb, IXc typically present with hepatomegaly, elevated liver enzymes, dyslipidemia, growth retardation, renal tubular dysfunction and can present with KH

Among patients with 2-year data who underwent early conversion to mTORi (n=93), those who maintained therapy for 1 year experienced improvement in eGFR with a reduction in chronic kidney disease (CKD) stage (29.8% vs 11.1%, p=0.04), particularly among those with 12-week eGFR 65 years old

In our prior study, involving mild TBI patients, we have reported a significant neurocognitive benefit by the combined use of guanfacine and NAC, with proposed longitudinal antioxidant and anti-inflammatory benefits (35), as well as pediatric population (36)

Levels of NLRP3, caspase-1, and IL-1 in granulosa cells of DOR patients (Navarro-Pando et al., 2021)

The blood collected was used for in vitro research studies in BSL-3 and BSL-2 facilities

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