Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12031
Abstract: To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts. read more here.
Keywords: combined comparative; comparative data; cycle disorders; urea cycle ... See more keywords
The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-0157-4
Abstract: Neonatal onset hyperammonemia in patients with urea cycle disorders (UCDs) is still associated with high morbidity and mortality. Current protocols consistently recommend emergency medical and dietary management. In case of increasing or persistent hyperammonemia, with… read more here.
Keywords: neonatal onset; cycle disorders; urea cycle; ammonia levels ... See more keywords
Fifteen years of urea cycle disorders brain research: Looking back, looking forward.
Sign Up to like & getrecommendations! Published in 2021 at "Analytical biochemistry"
DOI: 10.1016/j.ab.2021.114343
Abstract: Urea cycle disorders (UCD) are inherited diseases resulting from deficiency in one of six enzymes or two carriers that are required to remove ammonia from the body. UCD may be associated with neurological damage encompassing… read more here.
Keywords: research; fifteen years; cycle disorders; urea cycle ... See more keywords
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pharmaceutical and biomedical analysis"
DOI: 10.1016/j.jpba.2019.112798
Abstract: PURPOSE Salts of phenylacetic acid (PAA) and phenylbutyric acid (PBA) have been used for nitrogen elimination as a treatment for hyperammonaemia caused by urea cycle disorders (UCD). A new analytical method for PBA measurement in… read more here.
Keywords: treatment; pba; cycle disorders; urea cycle ... See more keywords
Citrulline for urea cycle disorders in Japan
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DOI: 10.1111/ped.13163
Abstract: The amino acid l‐citrulline is used as a therapeutic agent for urea cycle disorders (UCD) including ornithine transcarbamylase deficiency (OTCD), carbamoyl phosphate synthetase I deficiency (CPSD), and N‐acetylglutamate synthase deficiency. There are few reports, however,… read more here.
Keywords: citrulline urea; cycle disorders; urea cycle; disorders japan ... See more keywords
Management of late onset urea cycle disorders—a remaining challenge for the intensivist?
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Intensive Care"
DOI: 10.1186/s13613-020-00797-y
Abstract: Background Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity. Urea cycle disorders are autosomal recessive… read more here.
Keywords: late onset; cycle; management late; cycle disorders ... See more keywords
Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives
Sign Up to like & getrecommendations! Published in 2017 at "Patient preference and adherence"
DOI: 10.2147/ppa.s136754
Abstract: Urea-cycle disorders are a group of rare hereditary metabolic diseases characterized by deficiencies of one of the enzymes and transporters involved in the urea cycle, which is necessary for the removal of nitrogen produced from… read more here.
Keywords: cycle disorders; sodium phenylbutyrate; urea cycle; sodium ... See more keywords
The nutritional habits of women who train in fitness clubs and the potential implications on menstrual cycle disorders.
Sign Up to like & getrecommendations! Published in 2022 at "Przeglad epidemiologiczny"
DOI: 10.32394/pe.75.41
Abstract: INTRODUCTION Nutrition is one of the most important lifestyle elements influencing health and contributing to the correct functioning of the human body. OBJECTIVES The aim of the research was to analyse the nutritional behaviour and… read more here.
Keywords: cycle; cycle disorders; fitness clubs; menstrual disorders ... See more keywords
Urea cycle disorders and indications for liver transplantation
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2023.1103757
Abstract: Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to convert nitrogen from ammonia into urea. Current paradigms of treatment focus on dietary manipulations, ammonia scavenger drugs, and liver… read more here.
Keywords: cycle disorders; urea cycle; transplantation; disorders indications ... See more keywords