Results 21 to 30 of about 2,741,348 (370)

A rare but treatable inborn error of metabolism: Arginine:glycine amidinotransferase (AGAT) deficiency [PDF]

Romanian Journal of Pediatrics, 2022
AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness.
Sebastian Romeo Pintilie, Adriana Fodor, Marius Bembea, Codruta Diana Petchesi, Simona Grad, Laura Damian, Romana Vulturar   +6 more
doaj   +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, Rahul Ramnath Holkar, Shruti Sudhir Jadhav, Maaz Ahmed, Sushma Malik   +4 more
doaj   +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, Annita Achilleos, Xuefei Tong, Matthew C. Hill, Alexander B. Saltzman, Lucas C. Reineke, Arindam Chaudhury, Swapan K. Dasgupta, Yushi Redhead, David Watkins, Joel R. Neilson, Perumal Thiagarajan, Jeremy B. A. Green, Anna Malovannaya, James F. Martin, David S. Rosenblatt, Ross A. Poché   +16 more
doaj   +1 more source

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

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, Emilia K. Embiruçu, Clarissa Bueno, Rafaela C. C. L. Ferreira, Fernanda S. Oliveira, Ane S. S. Pereira, Ida V. D. Schwartz, Anderson R. B. Paiva, Leandro T. Lucato, Fernando Kok   +9 more
doaj   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques

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, Jacopo Sartorelli, Vincenza Gragnaniello, Alberto Burlina   +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

A Case of Consanguinity

Global Pediatric Health, 2022
A newborn of unknown gestational age and unknown chronological age was admitted to the neonatal intensive care unit after presenting to the emergency department for evaluation and concern for neglect.
Carla Brown MD, Paige Jones-Brooks BS, Gwenevere White MD, Zackary Shearer MD, Megan Baber DO   +4 more
doaj   +1 more source

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

Liver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source

Network effects lead to self-organization in metabolic cycles of self-repelling catalysts [PDF]

Phys. Rev. Lett. 131, 128301 (2023), 2023
Mixtures of particles that interact through phoretic effects are known to aggregate if they belong to species that exhibit attractive self-interactions. We study self-organization in a model metabolic cycle composed of three species of catalytically-active particles that are chemotactic towards the chemicals that define their connectivity network.
arxiv   +1 more source