Acatalasemia Latest Advances

From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series.

Journal: Journal of inherited metabolic disease

Published: September 24, 2025

A unique case of microspherophakia in adult Refsum disease.

Journal: American journal of ophthalmology case reports

Published: August 27, 2025

Inborn Errors of Metabolism: Refsum Disease.

Journal: Advances in experimental medicine and biology

Published: July 30, 2025

Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China.

Journal: Frontiers in genetics

Published: May 20, 2025

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.

Journal: The application of clinical genetics

Published: February 20, 2025

The discovery of acatalasemia (lack of catalase in the blood) and its significance in human genetics.

Journal: Proceedings of the Japan Academy. Series B, Physical and biological sciences

Published: July 31, 2024

A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).

Journal: Archives of oral biology

Published: April 11, 2024

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

Journal: International journal of molecular sciences

Published: March 12, 2024

Analysis of five cases showing false-high Hemoglobin A1c due to reduced catalase activity.

Journal: Endocrine journal

Published: November 29, 2023

KatG catalase deficiency confers bedaquiline hyper-susceptibility to isoniazid resistant Mycobacterium tuberculosis.

Journal: bioRxiv : the preprint server for biology

Published: October 31, 2023

A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate.

Journal: Cureus

Published: November 20, 2022

A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate.

Journal: Cureus

Published: November 20, 2022