neonatal hypotonia

April 30, 2024

D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature

Abstract D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids.…

August 9, 2022

Encircling Scleral Buckling Surgery for Severe Hypotony with Ciliary Body Detachment on Anterior Segment Swept-Source Optical Coherence Tomography: A Case Series

Abstract This study aimed to evaluate the usefulness of an encircling scleral buckling procedure to manage severe hypotony secondary to…

July 23, 2021

Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review

Abstract Background: D-Bifunctional protein deficiency (D-BPD) is an autosomal recessive disorder caused by peroxisomal β-oxidation defects. According to the different…