Results 21 to 30 of about 5,107 (173)

Organoids for Metabolic Disease Modeling. [PDF]

J Inherit Metab Dis
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Ardisasmita AI, Nieuwenhuis EES, Fuchs SA.   +2 more
europepmc   +2 more sources

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta

Molecular Genetics and Metabolism Reports
Background: Galactosemia type I is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase deficiency, encoded by GALT.
Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews   +6 more
doaj   +1 more source

Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia

Disease Models & Mechanisms, 2013
SUMMARY Classic galactosemia is a genetic disorder that results from profound loss of galactose-1P-uridylyltransferase (GALT). Affected infants experience a rapid escalation of potentially lethal acute symptoms following exposure to milk.
Patricia P. Jumbo-Lucioni, Marquise L. Hopson, Darwin Hang, Yongliang Liang, Dean P. Jones, Judith L. Fridovich-Keil   +5 more
doaj   +1 more source

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

Analysis of common mutation for GALT gene in newborns with galacatosemia Nineveh governorate

مجلة مركز بحوث التقنيات الاحيائية, 2014
Iraq contains many diseases that have never been counted or examined, including diseases related to food, which has deteriorated in recent years, and has rapid and direct impact especially on the children category, one of these diseases is galactosemia.
Owayes M Alhassani, Akeel H. Alassie, Saad G. Saleh   +2 more
doaj   +1 more source

Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto, Suvarna S. Khadilkar, Rossella E. Nappi, Andrea R. Genazzani, Federica Frezet, Laura Cucinella, Hema Divakar, Panagiotis Anagnostis, Nick Panay   +8 more
wiley   +1 more source

Galactosemia

Acta Paediatrica, 1954
SummaryComparative galactose tolerance tests have been carried out in one patient suffering from galactosemia and in three patients suffering from hepatic lesions of varying etiology. The findings indicate that galactosemia is an independent primary disease, in causal relation to isolated enzyme deficiency in the liver.
openaire   +3 more sources

Pre‐Exercise Galactose or Lactose Reduces Glycaemic Excursions During Exercise in Adults With Type 1 Diabetes: A Randomised, Double‐Blind, Crossover Trial

Diabetes, Obesity and Metabolism, Volume 28, Issue 9, Page 7825-7833, September 2026.
ABSTRACT Aims To test whether pre‐exercise galactose and lactose reduce glycaemic excursions during exercise compared with dextrose while maintaining protection against hypoglycaemia compared with placebo in adults with Type 1 diabetes Methods In a randomised, double‐blind, 4‐condition crossover trial, 14 adults with Type 1 diabetes completed four 60 ...
Karoline R. Schmidt, Rakel F. Johansen, Simon B. Riis, Mads S. Larsen, Henrik Støvring, Gareth A. Wallis, David Rowlands, Lars C. Gormsen, Esben Søndergaard   +8 more
wiley   +1 more source

Galactosemia and timing of puberty: a case report of early diagnosed hypergonadotropic hypogonadism

Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
Galactosemia is an inborn error of galactose metabolism, characterized by the failure to metabolize galactose correctly due to enzyme deficiencies. Type I or classic galactosemia is the most severe form of galactosemia. The diagnosis is made by metabolic
Cecilia Lugarà, Roberto Coco, Alessandra Li Pomi, Letteria Anna Morabito, Malgorzata Wasniewska, Tommaso Aversa   +5 more
doaj   +1 more source

Clinically Diagnosed Decompensated Chronic Liver Disease With Suspected Portal Hypertension in a One‐Year‐Old Infant: Diagnostic Challenges in a Resource‐Limited Setting

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Chronic liver disease in infancy is uncommon, diagnostically demanding, and rarely reported from sub‐Saharan Africa, where advanced hepatologic evaluation is seldom accessible. We describe a one‐year‐old boy from rural Somaliland who presented with a two‐week history of progressive abdominal distension, followed by jaundice, hematemesis and ...
Khadar Jama Ibrahim, Abdisamed Mohamoud H. Ali, Nouradin Ibrahim Omer, Omer Ali Elmi   +3 more
wiley   +1 more source