Witryna1 kwi 2024 · Sodium 4-phenylbutyrate (NaPB), a standard therapy for UCDs for over 20 years, generates an alternative pathway of nitrogen deposition through glutamine consumption. Administration during or immediately after a meal is the accepted use of NaPB. However, this regimen is not based on clinical evidence. Here, an open-label, … Witryna4 kwi 2024 · Then, a severe regression occurred. We identified a novel homozygous protein-truncating variant in the NAPB (NSF attachment protein beta) gene that encodes the βSNAP protein, a key regulator of the NSF (N-ethylmaleimide-sensitive fusion) ATPase. This enzyme is essential for synaptic transmission by disassembling and …
NAPB and developmental and epileptic encephalopathy: …
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Understanding the thermally activated charge transport in NaPb
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