Results 71 to 80 of about 2,744,295 (327)

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses [PDF]

, 2021
The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of
Abadie V., Acosta A., Aldámiz‐Echevarría L., Anderson P. J., Aoki K., Aulehla‐Scholz C., Berthelon M., Bickel H., Birk M. L., Blau N., Blau N., Blau N., Blau N., Blau N., Bonafé L., Bonyadi M., Borrajo G. J., Bueno M. A., Byck S., Camp K. M., Daniele A., Delgado P. C., Desviat L. R., Dianzani I., Donlon J., Drummond A. J., Dworniczak B., Dworniczak B., El‐Metwally A., Enacán R. E., Erlandsen H., Fölling A., Ghiasvand N. M., Giannattasio S., Giannattasio S., Giovannini M., Guldberg P., Guldberg P., Guldberg P., Guldberg P., Gundorova P., Guthrie R., Guthrie R., Gámez A., Güttler F., Habib A., Hamzehloei T., Harding C. O., Ichinose H., Jaruzelska J., Jiang J., Kayaalp E., Koochmeshgi J., Kostandyan N., Lilleväli H., Lilleväli H., Liu N., Loeber J. G., Madden M., Magalhães J., Magalhães J., Marcão A., Michals‐Matalon K., National Institutes of Health Consensus Development Panel, Okano Y., Osório R., Osório R. V., Ozalp I., Ozgüç M., Pangkanon S., Phenylketonuria, Pérez B., Rivera I., Rivera I., Rivera I., Santos L. L., Santos L. L., Scriver C. R., Scriver C. R., Smith I., Sousa R., Staudigl M., Sumaily K. M., Thöny B., Traeger‐Synodinos J., Trefz F. K., Vallian S., Vieira Neto E., Vieira Neto E., Vilarinho L., Vilarinho L., Vilarinho L., Vilarinho L., Walter J. H., Waters P. J., Wegberg A. M. J., Zare‐Karizi S. H., Zhan J. Y., Zschocke J., Zschocke J., Zschocke J., Zschocke J.   +101 more
core   +3 more sources

Inborn Errors of Metabolism

, 2016
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
openaire   +4 more sources

Sjögren-Larsson syndrome: A study of clinical symptoms in six children

Indian Dermatology Online Journal, 2014
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation.
Sahana M Srinivas, KN Vykunta Raju, Ravi Hiremagalore   +2 more
doaj   +1 more source

Transient Hyperammonemia of the Newborn: A Case Study [PDF]

Iranian Journal of Neonatology, 2018
Background: Transient hyperammonemia of the newborn (THAN) is an overwhelming condition presenting with coma within 2-3 days of life and requiring immediate treatment. The etiology of this condition remains unknown. Duration of coma determines the degree
Amir Kamal Hardani, Majid Aminzadeh
doaj   +1 more source

Left atrial function in uraemic patients: Four‐dimensional automatic left atrial quantitative technology study

ESC Heart Failure, Volume 12, Issue 2, Page 1316-1325, April 2025.
Abstract Objective This study aimed to evaluate the utility of left atrial volume and function in uraemic patients using four‐dimensional automatic left atrial quantification (4D auto LAQ) technology. Methods Thirty‐four undialysed uraemic patients (U‐ND group), 60 dialysed uraemic patients (U‐D group), and 32 healthy volunteers (N group) were enrolled
Bing Li, Meihua Chen, Xuning Huang
wiley   +1 more source

Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism

Genes and Diseases, 2022
Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the ...
Brendan P. Norman, Andrew S. Davison, Juliette H. Hughes, Hazel Sutherland, Peter JM. Wilson, Neil G. Berry, Andrew T. Hughes, Anna M. Milan, Jonathan C. Jarvis, Norman B. Roberts, Lakshminarayan R. Ranganath, George Bou-Gharios, James A. Gallagher   +12 more
doaj  

The Dynamics of Hybrid Metabolic-Genetic Oscillators [PDF]

Chaos. 2013 Mar;23(1):013132, 2013
The synthetic construction of intracellular circuits is frequently hindered by a poor knowledge of appropriate kinetics and precise rate parameters. Here, we use generalized modeling (GM) to study the dynamical behavior of topological models of a family of hybrid metabolic-genetic circuits known as "metabolators." Under mild assumptions on the kinetics,
arxiv   +1 more source

Treatment of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire   +3 more sources

Tandem Mass Neonatal Screening in Taiwan—Report from One Center

Journal of the Formosan Medical Association, 2006
Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified.
Hsiang-Po Huang, Kai-Lin Chu, Yin-Hsiu Chien, Ming-Lee Wei, Shu-Tzu Wu, Shiao-Fang Wang, Wuh-Liang Hwu   +6 more
doaj   +1 more source