Results 51 to 60 of about 26,055 (351)
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Microphysiological Systems of Lymphatics and Immune Organs
Advanced Healthcare Materials, EarlyView.This review surveys recent progress in engineering lymphatic microenvironments and immune organoids within microphysiological systems, emphasizing innovative strategies to recreate the biochemical and biophysical complexity of native lymphatic tissues.
Ishita Jain +2 more
wiley +1 more source
Impaired biotin status in anticonvulsant therapy [PDF]
, 1982 In 264 epileptics undergoing long-term therapy with anticonvulsants, significantly reduced plasma biotin levels were found compared with a normal control group: 74% of the epileptics had biotin levels for those treated with sodium valproate were higher ...
Bonjour +7 more
core +1 more source
Progressive Insights into 3D Bioprinting for Corneal Tissue Restoration
Advanced Healthcare Materials, EarlyView.This review explores the potential of 3D bioprinting to replicate the complex structure and function of the human cornea. It highlights key advances in bioink development, printing modalities, and in vivo performance, while addressing current challenges and emerging strategies. The review emphasizes bioprinting's promise to overcome donor shortages and
Ilayda Namli +6 more
wiley +1 more source
Journal of Pediatric Critical Care, 2020 The metabolic crisis due to inborn error of metabolism can present as an isolated entity or along with the underlying sepsis at any age in children. Here, we present 14 months old boy born of third-degree consanguinity, apparently healthy in the past ...
Ramaning Loni +4 more
doaj +1 more source
, 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
Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]
, 2017 Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core +2 more sources
Probiotic‐Based Materials as Living Therapeutics
Advanced Materials, EarlyView.Recent advances in Engineered Living Materials are highlighted, integrating synthetic biology and advanced materials, with a focus on probiotic‐based therapeutics. Probiotic Living Materials hold great potential for biosensing, infection treatment, osteogenesis, wound healing, vaginal and gastrointestinal disorders, and cancer therapy. breakthroughs in
Laura Sabio +2 more
wiley +1 more source
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
CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
doaj