Results 21 to 30 of about 115,827,059 (170)

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients. [PDF]

Clin Genet
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Abdmouleh A, Jilani H, Rejeb I, Hizem S, Pottier N, Larrue R, Arondal W, Hanquet L, Benrabeh R, Bouyahia O, Mazigh S, Elaribi Y, Benjemaa L.   +12 more
europepmc   +2 more sources

Liver Transplantation in an Adult with Citrullinaemia Type 2

Journal of Transplantation, 2011
Citrullinaemia is a urea cycle defect that results from a deficiency of the enzyme arginosuccinate synthetase. Type 1 disease is diagnosed in childhood, whereas Type 2 disease is adult onset.
Hui-Hui Tan, Wan-Cheng Chow, Kiat-Hon Lim, Wei-Keat Wan, Alexander Y. F. Chung, Peng-Chung Cheow, Chee-Kiat Tan   +6 more
doaj   +2 more sources

High Intrahepatic cccDNA in Resolved HBV Infection: Insights From Living Donor Liver Transplantation With Anti-HBc-Positive Grafts. [PDF]

J Gastroenterol Hepatol
ABSTRACT Aim In hepatitis B surface antigen (HBsAg)‐negative recipients with antibody to hepatitis B core antigen (anti‐HBc)‐positive liver grafts, hepatitis B virus (HBV) can be reactivated under post‐transplant immunosuppression. We recently reported a median intrahepatic covalently closed circular DNA (cccDNA) level of 238 copies/μg in HBsAg ...
Bae SK, Akamatsu N, Ichida A, Nishioka Y, Inagaki Y, Miyake N, Takamoto T, Kawaguchi Y, Tamura S, Arita J, Kaneko J, Otsuka M, Tanaka Y, Yotsuyanagi H, Moriya K, Hasegawa K.   +15 more
europepmc   +2 more sources

Pregnancy-related Type Citrullinemia Type 1: an Analysis of 14 Cases and Review of the Literature [PDF]

, 2021
Abstract Citrullinemia type 1 (CTLN1) is a rare autosomal recessive urea cycle disorder, without functional argininosuccinate synthase (ASS) enzyme, mostly occurring in newborns and infants, but it has been reported having an adult-onset in carriers of the pathogenic gene, and even more rarely, the onset of the disease is pregnancy related. The
Jiapo Li, Liyang Zhang, Ruochen Wang, Fan Li, Maryam F. Abdelrahim, Ling Huang, Chong Qiao   +6 more
openaire   +2 more sources

Citrullinemia with an atypical presentation: Paroxysmal hypoventilation attacks

Journal of Pediatric Neurosciences, 2018
Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation ...
Zeynep Öztürk, Tuğba Hirfanoğlu, Aslı İnci, İlyas Okur, Esin Koç, Leyla Tümer, Ebru Arhan, Kürşad Aydın, Ayşe Serdaroğlu   +8 more
doaj   +2 more sources

Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Monilethrix is a rare genetic disorder characterized by sparse, brittle hair, primarily affecting the scalp, although it may also affect other parts of the body. Trichorrhexis nodosa (TN) is another hair shaft disorder characterized by brittle and fragile hair shafts. Concurrence of monilethrix and TN is exceedingly rare.
Dehghan Y, Sepaskhah M.
europepmc   +2 more sources

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang   +12 more
doaj   +2 more sources

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I. [PDF]

PLoS Genetics
Sequence variants in the urea cycle gene argininosuccinate synthase (ASS1) cause Citrullinemia type 1 (CTLN1), a rare autosomal recessive disease. Mechanistically, reduction in argininosuccinate synthetase (ASS) enzyme activity impairs the urea cycle ...
Russell S Lo, Gareth A Cromie, Michelle Tang, Amy Sirr, Ljubica Caldovic, Hiroki Morizono, Nicholas Ah Mew, Andrea Gropman, Aimée M Dudley   +8 more
doaj   +2 more sources

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders [PDF]

Scientific Reports
Principles of long-term medical management in individuals with urea cycle disorders (UCDs) encompass (1) a low protein diet, (2) supplementation of arginine and/or citrulline along with essential amino acids, nutrients, vitamins and trace elements, and ...
Roland Posset, Friederike Epp, Sven F. Garbade, Florian Gleich, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka   +8 more
doaj   +2 more sources

A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China [PDF]

International Journal of Neonatal Screening
Amino acid metabolic disorders (AAMs) are a group of inherited metabolic diseases caused by defects in enzymes or transporters involved in amino acid metabolism.
Qiongfang Yao, Shuting Huang, Fei Kong, Min Wu, Xiaolong Qiu, Peiran Zhao, Yinglin Zeng, Jinying Luo, Jinfu Zhou, Liangpu Xu   +9 more
doaj   +2 more sources