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Last Updated: 01/07/2026
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Found 338 publications
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
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
Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.
Journal: International journal of environmental research and public health
Published: December 28, 2021
Last Updated: 01/07/2026