Results 41 to 50 of about 2,676,573 (175)
AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures
Biomolecules, 2020 Can you imagine a disease in which intake of an excess amount of sugars or carbohydrates causes hyperammonemia? It is hard to imagine the intake causing hyperammonemia.
Takeyori Saheki +3 more
doaj +1 more source
Cancer carrier screening in the general population using whole‐genome sequencing
Cancer Medicine, 2023 Background Cancer is a major cause of death, and its early identification and intervention have potential for clinical actionability and benefits for human health.
Ya‐Sian Chang +11 more
doaj +1 more source
Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta
Clinical Pharmacology &Therapeutics, EarlyView.Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung +12 more
wiley +1 more source
Obesity, EarlyView.ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee +2 more
wiley +1 more source
, 2004 Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin. The absence of citrin leads to a liver-specific, quantitative decrease of
Li, MX +10 more
core +1 more source
Clinical Genetics, EarlyView.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
Amal Abdmouleh +12 more
wiley +1 more source
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China
Frontiers in Pediatrics, 2021 Background: Children presenting with chronic liver disease or acute liver failure often have an underlying genetic disorder. The aim of this study was to analyze the clinical and genetic spectra of inherited liver disease in children in a tertiary ...
Youhong Fang +5 more
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk +39 more
wiley +1 more source
Update of SLC25A13 mutations in patients with citrin deficiency.
, 2013 Update of SLC25A13 mutations in patients with citrin deficiency.
Mei Deng (460870) +16 more
core +1 more source