Results 11 to 20 of about 2,700,321 (328)
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023 Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram +11 more
wiley +1 more source
Clinical overview on RASopathies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022 Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley +1 more source
Methylmalonic Acidemia- A Rare Inborn Error of Metabolism [PDF]
Indian Journal of Neonatal Medicine and Research, 2016 The methylmalonic acidemias (MMA) are a heterogeneous group of autosomal recessive inborn errors of organic acid metabolism. The hallmark of MMA is hyperammonemia, encephalopathy and metabolic acidosis in infancy and especially so in neonatal age ...
Charusheela Sujit Korday +4 more
doaj +1 more source
Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment
Endocrinology, Diabetes &Metabolism, Volume 6, Issue 1, January 2023., 2023 MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. In this review, we discuss the genetics, pathogenesis, clinical presentation, diagnosis, and treatments for Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD ...
Emily Mason +2 more
wiley +1 more source
European Journal of Immunology, Volume 53, Issue 1, January 2023., 2023 Modern surgical (technical) possibilities enable pleural macrophage isolation and analyses regardless the person`s age. Transcriptome profiling of macrophages from healthy or sick individuals revealed that these cells express high levels of metallothioneins, metal‐binding proteins that are involved in heavy metal detoxification, antioxidative defense ...
Nagoud Schukfeh +11 more
wiley +1 more source
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
Nature Communications, 2022 Combined methylmalonic acidemia (MMA) and hyperhomocysteinemias are inborn errors of vitamin B12 metabolism, and mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) underlie some forms of these disorders. Here the authors generated mouse
Tiffany Chern +16 more
doaj +1 more source
JIMD Reports, 2021 Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis ...
José A. Paz +9 more
doaj +1 more source
Frontiers in Pediatrics, 2022 Congenital hyperinsulinism comprises a group of diseases characterized by a persistent hyperinsulinemic hypoglycemia, due to mutation in the genes involved in the regulation of insulin secretion.
Mariangela Martino +3 more
doaj +1 more source
Universal scaling relation and criticality in metabolism and growth of Escherichia coli [PDF]
Phys. Rev. Research 6, 013035 (2024), 2023 The metabolic network plays a crucial role in regulating bacterial metabolism and growth, but it is subject to inherent molecular stochasticity. Previous studies have utilized flux balance analysis and the maximum entropy method to predict metabolic fluxes and growth rates, while the underlying principles governing bacterial metabolism and growth ...
arxiv +1 more source