Results 31 to 40 of about 1,659 (139)

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

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

Consistency and clarity of pharmacogenomic guidance in UK medicine patient information leaflets: A cross‐sectional analysis

British Journal of Clinical Pharmacology, EarlyView.
Pharmacogenomic (PGx) information has the potential to support the safe and effective use of medicines, yet there is uncertainty about how this information can be best communicated to patients. Summaries of product characteristics (SmPCs) and patient information leaflets (PILs) for all UK‐approved medicines with strong evidence supporting a PGx ...
Parth Narlawar, Chloe Ratcliffe, Videha Sharma, William G. Newman, Munir Pirmohamed, John McDermott   +5 more
wiley   +1 more source

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

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

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

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

Beyond Malabsorption: The Need for Symptom‐Based Assessment in Suspected Lactose Intolerance. Lessons From a Test‐Specific Symptom Assessment

Neurogastroenterology &Motility, EarlyView.
Breath test–proven malabsorption does not reliably predict symptoms. Many patients without malabsorption still develop significant symptoms. Symptoms after lactose ingestion are linked to fructose sensitivity and functional GI disorders. Validated, test‐specific symptom assessment is required to identify patients who may benefit from treatment ...
Johann Hammer, Heinz F. Hammer
wiley   +1 more source

The Complex Relation of Branched‐Chain Amino Acids and Inflammation in the Obesity and Diabetes Context

Obesity Reviews, EarlyView.
ABSTRACT In a scenario with increasing cases of obesity and diabetes worldwide, branched‐chain amino acids (BCAA) metabolism has become an important factor in the understanding of these pathologies. More recently, its chronic high plasma levels have been postulated, alongside glucose, inflammatory factors, and other molecules, as an important ...
Bernardo Starling‐Soares, Monique Macedo Coelho, Bruna Guerra Campolina, Camila Kümmel Duarte, Tatiani Uceli Maioli   +4 more
wiley   +1 more source

Hereditary Fructose Intolerance

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1983
Hereditary fructose intolerance is the result of a congenital deficiency in fructose-1-phosphate aldolase and is transmitted by an autosomal recessive gene (1).
VISCOLI, CLAUDIO, Ferrea G, Agnese G, Bertorello E.   +3 more
openaire   +4 more sources