Results 251 to 260 of about 87,827 (343)

Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of inherited metabolic diseases (IMD) characterized by defects in the synthesis and modification of glycoproteins and glycolipids. One of these disorders is ATP6AP1‐CDG, a rare X‐linked disease with approximately 30 cases reported so far. Symptoms associated with ATP6AP1‐CDG
Amirreza Jabbaripour Sarmadian   +4 more
wiley   +1 more source

Cochlear implantation in children with Bartter syndrome: A case report. [PDF]

open access: yesSci Prog
Badr KM   +5 more
europepmc   +1 more source

Combined Immediate‐Release and Extended‐Release Formulation of Sodium Valproate Provides Stable Plasma Levels for Inhibition of Histone Deacetylation

open access: yesClinical Pharmacology in Drug Development, Volume 14, Issue 9, Page 717-727, September 2025.
Abstract A modified controlled‐release sodium valproate formulation (VAL001, test) was compared with an approved enteric‐coated tablet formulation (Absenor, reference). Pharmacokinetics and safety/tolerability were evaluated in healthy subjects to bridge with positive efficacy results from an early‐phase patient trial of valproate in combination with ...
Nikhil Ahuja   +8 more
wiley   +1 more source

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