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Access this article Similar content being viewed by others Abbreviations TMA: Trimethylamine TMAO: Trimethylamine-N-oxide AS: Atherosclerosis DMB: 3, 3-Dimethyl-1butanol NLRP3: Nucleotide-binding oligomerization domain-like receptor family pyrin domain containing 3 BB: -Butyrobetaine PERK: Protein kinase R-like endoplasmic reticulum kinase SR-A: Scavenger receptor-A MAPK: Mitogen-activated protein kinase JNK: C-JUN NH2-terminal protein kinase NF-B: Nuclear factor kappa B CD36: Cluster of differentiation 36 HSP: Heat shock protein GRP: Glucose-related protein TXNIP: Thioredoxin-interactive protein ROS: Reactive oxygen species HMGB1: High mobility group box 1 TNF-: Tumor necrosis factor IL-6: Interleukin 6 VCAM-1: Vascular cell adhesion molecule 1 PKC: Protein kinase C SIRT3: Sirtuin 3 SOD2: Superoxide dismutase 2 ERS: Endoplasmic reticulum stress References Koh, A., De Vadder, F., Kovatcheva-Datchary, P., & Bckhed, F

In patients who receive supplementation, as in patients with known SPCD, close follow-up is therefore recommended to adjust supplementation when necessary

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Recently, mutations in TRPV4 have been associated with congenital distal SMA and scapuloperoneal SMA [49, 50]

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