1. Wang, Yanhong, Zheng, Xuan, Feng, Chao, Lei, Zhi, Mei, Shiyue. 2022. HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders. In Molecular genetics & genomic medicine, 10, e2025. doi:10.1002/mgg3.2025. https://pubmed.ncbi.nlm.nih.gov/35985664/
2. Sun, Yu, Wei, Xiujuan, Fang, Fang, Fang, Hezhi, Yu, Yongguo. 2021. HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration. In Journal of genetics and genomics = Yi chuan xue bao, 48, 727-736. doi:10.1016/j.jgg.2021.01.009. https://pubmed.ncbi.nlm.nih.gov/34334354/
3. Ghosh, Shereen G, Lee, Sangmoon, Fabunan, Rudy, Maroofian, Reza, Gleeson, Joseph G. 2020. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. In Genetics in medicine : official journal of the American College of Medical Genetics, 23, 524-533. doi:10.1038/s41436-020-01010-y. https://pubmed.ncbi.nlm.nih.gov/33188300/
4. Peng, Tian, Sun, Fang, Yang, Jia-Chun, Zhang, Fei-Yu, Xu, Lei-Ming. . Novel lactylation-related signature to predict prognosis for pancreatic adenocarcinoma. In World journal of gastroenterology, 30, 2575-2602. doi:10.3748/wjg.v30.i19.2575. https://pubmed.ncbi.nlm.nih.gov/38817665/
5. Husain, Ralf A, Grimmel, Mona, Wagner, Matias, Wortmann, Saskia B, Haack, Tobias B. 2020. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. In American journal of human genetics, 107, 364-373. doi:10.1016/j.ajhg.2020.06.015. https://pubmed.ncbi.nlm.nih.gov/32707086/
6. Kojima, Fumikazu, Okamoto, Yuji, Ando, Masahiro, Matsuura, Eiji, Takashima, Hiroshi. 2024. A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review. In Neurogenetics, 25, 149-156. doi:10.1007/s10048-024-00746-y. https://pubmed.ncbi.nlm.nih.gov/38286980/
7. Micule, Ieva, Lace, Baiba, Wright, Nathan T, Rivest, Serge, Inashkina, Inna. 2022. Case Report: Two Families With HPDL Related Neurodegeneration. In Frontiers in genetics, 13, 780764. doi:10.3389/fgene.2022.780764. https://pubmed.ncbi.nlm.nih.gov/35222531/