A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367 (Source: The Turkish Journal of Pediatrics)
Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research
Maternal and neonatal outcomes of intrahepatic cholestasis of pregnancy after in vitro fertilization
Intrahepatic cholestasis of pregnancy (ICP) is an idiopathic disease of pregnancy. Little is known about how it specifically affects pregnancies resulting from in vitro fertilization (IVF). Our aim is to evalu... (Source: BMC Pregnancy and Childbirth)
Source: BMC Pregnancy and Childbirth - January 8, 2024 Category: OBGYN Authors: Ying Zhu, Le Xu, Rajluxmee Beejadhursing and Fei Li Tags: Research Source Type: research
A chemical derivatization-based pseudotargeted liquid chromatography-tandem mass spectrometry method for sensitive and high coverage determination of bile acids in human serum
Anal Chim Acta. 2024 Jan 25;1287:342119. doi: 10.1016/j.aca.2023.342119. Epub 2023 Dec 9.ABSTRACTGlobal profiling of bile acids (BAs) is imperative for understand their function and disease pathogenesis. But it is still a challenging task, as the collision-induced dissociation (CID) fragment ions of unconjugated BAs showed low ion intensities to insufficient analysis. Herein, we developed a highly sensitive method for pseudotargeted profiling of BAs by chemical derivatization. In the developed method, a labeling reagent, 2-dimethylaminoethylamine (DMED), was adopted to label the carboxyl group of BAs. The results demonstra...
Source: Analytica Chimica Acta - January 5, 2024 Category: Chemistry Authors: Xin Xiong Xunke Gu Xiaona Li Keke Jia Yuan Wei Rongsheng Zhao Source Type: research
A chemical derivatization-based pseudotargeted liquid chromatography-tandem mass spectrometry method for sensitive and high coverage determination of bile acids in human serum
Anal Chim Acta. 2024 Jan 25;1287:342119. doi: 10.1016/j.aca.2023.342119. Epub 2023 Dec 9.ABSTRACTGlobal profiling of bile acids (BAs) is imperative for understand their function and disease pathogenesis. But it is still a challenging task, as the collision-induced dissociation (CID) fragment ions of unconjugated BAs showed low ion intensities to insufficient analysis. Herein, we developed a highly sensitive method for pseudotargeted profiling of BAs by chemical derivatization. In the developed method, a labeling reagent, 2-dimethylaminoethylamine (DMED), was adopted to label the carboxyl group of BAs. The results demonstra...
Source: Analytica Chimica Acta - January 5, 2024 Category: Chemistry Authors: Xin Xiong Xunke Gu Xiaona Li Keke Jia Yuan Wei Rongsheng Zhao Source Type: research
A chemical derivatization-based pseudotargeted liquid chromatography-tandem mass spectrometry method for sensitive and high coverage determination of bile acids in human serum
Anal Chim Acta. 2024 Jan 25;1287:342119. doi: 10.1016/j.aca.2023.342119. Epub 2023 Dec 9.ABSTRACTGlobal profiling of bile acids (BAs) is imperative for understand their function and disease pathogenesis. But it is still a challenging task, as the collision-induced dissociation (CID) fragment ions of unconjugated BAs showed low ion intensities to insufficient analysis. Herein, we developed a highly sensitive method for pseudotargeted profiling of BAs by chemical derivatization. In the developed method, a labeling reagent, 2-dimethylaminoethylamine (DMED), was adopted to label the carboxyl group of BAs. The results demonstra...
Source: Analytica Chimica Acta - January 5, 2024 Category: Chemistry Authors: Xin Xiong Xunke Gu Xiaona Li Keke Jia Yuan Wei Rongsheng Zhao Source Type: research
Ultrasonographic evaluation of the gallbladder motor function in the diagnosis and prognosis of intrahepatic cholestasis of pregnancy
Intrahepatic cholestasis of pregnancy (ICP) is characterized by skin pruritus, elevated liver enzymes, and increased serum total bile acids. Several previous studies have revealed that the fasting and ejection... (Source: BMC Pregnancy and Childbirth)
Source: BMC Pregnancy and Childbirth - January 2, 2024 Category: OBGYN Authors: Minghui Tai, Long Chen, Yajuan He, Fei Wang and Zhen Tian Tags: Research Source Type: research
