Results 61 to 70 of about 25,995 (351)
Frequency inborn error of mitochondrial function in Mosul and Kurdistan region
Iraqi Journal of Pharmaceutical Sciences, 2020 This work aimed to estimate the frequency of mitochondrial inborn errors of metabolism (MIEMs) in patients presenting with family history and IEM-picture who referred for advance IEM assay in Mosul province and Kurdistan region.
Ashwaq N. Abbas +2 more
doaj +3 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 +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio +12 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson +3 more
wiley +1 more source
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 +6 more
doaj +1 more source
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism [PDF]
, 2023 Nina N. Stolwijk +7 more
openalex +1 more source
Evaluation of a modified triple‐combination anesthesia using dexmedetomidine in mice
Animal Models and Experimental Medicine, EarlyView.Development of a modified ketamine‐free anesthetic (dMMB) using dexmedetomidine. To improve the safety and recovery profile of conventional MMB, we developed dMMB by replacing medetomidine with dexmedetomidine. This ketamine‐free formulation showed comparable anesthetic depth and enhanced thermoregulation, avoiding unnecessary isomers for safer use ...
Masaki Watanabe +5 more
wiley +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 +2 more sources
Carnitine Inborn Errors of Metabolism [PDF]
Molecules, 2019 Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis.
Mohammed Almannai +2 more
openaire +3 more sources
Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden
Annals of Neurology, EarlyView.Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael +5 more
wiley +1 more source