Results 251 to 260 of about 3,294,575 (284)

Urea cycle disorders

Okonkwo I, Stuart G, Ekasumara NF, Huncke TK: Urea cycle disorders, 2021
Okonkwo, Ijeoma, Stuart, Grant, Ekasumara, Nydia F., Huncke, Tessa K.   +3 more
openaire   +2 more sources

Biochemical Aspects of Urea Cycle Disorders

Pediatrics, 1981
In this paper I will review the biochemistry of the urea cycle of mammalian liver and point out the important clinical implications of this biochemistry. Second, I will consider some problems that arise in the use of human liver enzyme assays for evaluating deficiencies of urea cycle enzymes.
openaire   +2 more sources

Disorders of the Urea Cycle

2000
Five inherited disorders of the urea cycle are now well described. These are characterised by hyperammonaemia and disordered amino-acid metabolism. The presentation is highly variable: those presenting in the newborn period usually have an overwhelming illness that rapidly progresses from poor feeding, vomiting, lethargy or irritability and tachypnoea ...
openaire   +1 more source

Epigenetics: Future Prospective in Human Disorders and Therapeutics

Medical Epigenetics, 2021
Shriram N Rajpathak
exaly  

Urea Cycle Disorders and Indications for Liver Transplantation

Frontiers in Pediatrics, 2023
Ana Bergua, María D Lledín
exaly  

Hereditary Metabolic Disorders of the Urea Cycle

1971
Publisher Summary Urea is the main end product of nitrogen metabolism. It is formed from the ammonia arising from the metabolism of the amino acids of protein by a sequence of five reactions, four of which comprise the urea cycle proper. The end result is the conversion of ammonia into urea, with the reformation of the individual reactants of the ...
openaire   +2 more sources

Long-Term Outcome of Urea Cycle Disorders: Report From a Nationwide Study in Japan

Journal of Inherited Metabolic Disease, 2021
Kimitoshi Nakamura, Tomoko Lee, Mureo Kasahara   +2 more
exaly  

Epigenetics in Bone and Joint Disorders

Medical Epigenetics, 2021
V Nagaraja
exaly  

Role of Liver Transplantation in Urea Cycle Disorders: Report From a Nationwide Study in Japan

Journal of Inherited Metabolic Disease, 2021
Kimitoshi Nakamura, Mureo Kasahara, Yukihiro Inomata   +2 more
exaly  

Urea Cycle Disorders

2015
Nicholas Ah Mew, Maria Belen Pappa, Andrea L. Gropman   +2 more
openaire   +1 more source