Results 41 to 50 of about 3,517 (179)

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

Intolerância hereditária à frutose.

Acta Médica Portuguesa, 1998
Hereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine.
A I Lopes, A G Almeida, A E Costa, A Costa, M Leite   +4 more
doaj   +1 more source

Normal glucose metabolism in carnivores overlaps with diabetes pathology in non-carnivores [PDF]

, 2013
Carnivores, such as the dolphin and the domestic cat, have numerous adaptations that befit consumption of diets with high protein and fat content, with little carbohydrate content.
Schermerhorn, Thomas
core   +2 more sources

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center

Jornal de Pediatria (Versão em Português), 2020
Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017.
Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebastião, Thiago Oliveira Silva, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz   +7 more
doaj   +3 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Chronic, Environmentally Relevant PM2.5 Exposure Exacerbates Metabolic Dysfunction‐Associated Steatotic Liver Disease and Early‐Stage Renal Dysfunction in a Rodent Model

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT While epidemiological studies link fine particulate matter (PM2.5) exposure to metabolic dysfunction‐associated steatotic liver disease (MASLD) and renal dysfunction, a translational gap exists, as most animal models utilize acute, high‐dose exposures that poorly reflect chronic, moderate‐level human scenarios.
Yi‐Siao Chen, Hugo You‐Hsien Lin, Chien‐Tzu Lin, Si‐Hua Huang, Ming‐Lun Yeh, Ming‐Lung Yu, Jin‐Ching Lee, Yao‐Chi Chung, Wei‐Ming Li, Ching‐Chia Li, Shiu‐Feng Huang, Chia‐Hung Yen   +11 more
wiley   +1 more source

Analysis of DTC nutrigenetic services in Italy: state of the art, agreement to the ESHG statement and future outlooks [PDF]

, 2012
Background: In both USA and Europe operate companies selling Direct-to-consumer genetic tests (DTC). These tests are offered to healthy people aiming to identify predispositions to complex diseases and to take preventive measures.
Alessandra Cianflone, Antonella Monticelli, Fabio Acquaviva, Imma Castaldo, Michele Pinelli, Paola Vergara, Sergio Cocozza, Vincenzo Cinque   +7 more
core   +1 more source

Review of nutrition management of pediatric intestinal pseudo‐obstruction

Nutrition in Clinical Practice, EarlyView.
Abstract Chronic intestinal pseudo‐obstruction (CIPO) is a rare, heterogeneous, and debilitating disorder characterized by profound intestinal dysmotility and severe nutrition challenges. Its presentation resembles that of mechanical bowel obstruction, but CIPO occurs in the absence of luminal obstruction.
Senthilkumar Sankararaman, Raisa Rani James, Bushra El‐Amaireh, Andrea Adler, Kadakkal Radhakrishnan, Sujithra Velayuthan   +5 more
wiley   +1 more source

Cannabidiol and cannabigerol ameliorate steatotic liver disease via phosphocreatine buffering and lysosomal restoration

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) and cannabigerol (CBG) alleviate hepatic steatosis in obese mice by shifting energy buffering towards phosphocreatine and enhancing lysosomal lipid degradation and trafficking. These effects are associated with increased creatine kinase activity and lysobisphosphatidic acid (LBPA) levels, highlighting a previously unrecognised ...
Radka Kočvarová, Shahar Azar, Bella Agranovich, Ifat Abramovich, Saveliy Kirillov, Alina Nemirovski, Saja Baraghithy, Inbar Plaschkes, Emmanuelle Merquiol, Alexander Rouvinski, Galia Blum, Liad Hinden, Joseph Tam   +12 more
wiley   +1 more source

Neutrotoxic effects of fructose administration in rat brain: implications for fructosemia

Anais da Academia Brasileira de Ciências, 2015
Fructose accumulates in tissue and body fluids of patients affected by hereditary fructose intolerance (HFI), a disorder caused by the deficiency of aldolase B. We investigated the effect of acute fructose administration on the biochemical profile and on
Ernesto A. Macongonde, Naithan L.F. Costa, Bruna K. Ferreira, Mairis S. Biella, Marisa J.S. Frederico, Marcos R. de Oliveira, Silvio Ávila Júnior, Fátima R.M.B. Silva, Gustavo C. Ferreira, Emilio L. Streck, Patrícia F. Schuck   +10 more
doaj   +1 more source