Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking

Authors: Xiao-Yao Li, Bei-Yuan Zhang, Xin-Ran Liang, Yan-Yu Han, Min-Hua Cheng, Mei Wei, Ke Cao, Xian-Cheng Chen, Ming Chen, Jian-Feng Duan, Wen-Kui Yu

Source: BMC Medical Genomics, Vol 18, Iss 1, Pp 1-14 (2025)

Subject Terms: Glycerol-3-phosphate dehydrogenase 1, Gene-environment interaction, Hypertriglyceridemia, Missense variant, Hypertriglyceridemia-induced acute pancreatitis, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/c48d0c25282c417fb028903c66b84834

Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene

Authors: Jun Wang, Xinrong Sun, Lianying Jiao, Zhengtao Xiao, Farooq Riaz, Yufeng Zhang, Pengfei Xu, Ruiqing Liu, Tiantian Tang, Meiqi Liu, Dongmin Li

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: glycerol-3-phosphate dehydrogenase 1 (GPD1), transient infantile hypertriglyceridemia (HTGTI), hypertriglyceridemia, hepatic steatosis, hepatomegaly, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.916672/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/0ca4fb85ad5a4892941b31ea3ce9c75c

Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency

Authors: Lorenza Matarazzo, Valentina Ragnoni, Cristina Malaventura, Alberta Leon, Davide Colavito, Giovanni Battista Vigna, Giovanni Lanza, Aurelio Sonzogni, Giuseppe Maggiore

Source: JIMD Reports, Vol 54, Iss 1, Pp 25-31 (2020)

Subject Terms: fenofibrate, Glycerol‐3‐phosphate dehydrogenase 1 deficiency, GPD1 gene, hepatic steatosis, hepatomegaly, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/27e3a71eb65842dab0b604eefade4f79

Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia

Authors: Haihua Lin, Youhong Fang, Lin Han, Jie Chen, Jingan Lou, Jindan Yu

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: glycerol-3-phosphate dehydrogenase 1, transient infantile hypertriglyceridemia, hepatomegaly, hypohepatia, hepatic steatosis, next-generation sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.726116/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/bca8844634eb4e3abd26a2398c895aa6

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