Results 61 to 70 of about 1,659 (139)

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. [PDF]

Mol Genet Metab, 2023
Hong X, Edmondson AC, Strong A, Pomerantz D, Michl E, Berry G, He M.   +6 more
europepmc   +1 more source

Endogenous Fructose Production and Metabolism Drive Metabolic Dysregulation and Liver Disease in Mice with Hereditary Fructose Intolerance. [PDF]

Nutrients, 2023
Andres-Hernando A, Orlicky DJ, Kuwabara M, Cicerchi C, Pedler M, Petrash MJ, Johnson RJ, Tolan DR, Lanaspa MA.   +8 more
europepmc   +1 more source

Vitamin C and folate status in hereditary fructose intolerance. [PDF]

Eur J Clin Nutr, 2022
Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, Couce ML, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Chicano DM, Morales M, Pedrón-Giner C, Jáuregui EP, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Suarez MU, Miñana IV, de Las Heras J.   +21 more
europepmc   +1 more source

Inherited metabolic liver diseases in infants and children: an overview

Zdravniški Vestnik, 2013
Inborn errors of metabolism, which affect the liver are a large, continuously increasing group of diseases. Their clinical onset can occur at any age, from intrauterine period presenting as liver failure already at birth to late adulthood.
Ivo Barić
doaj  

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance. [PDF]

J Clin Med, 2021
Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, Couce ML, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Martínez Chicano D, Morales M, Pedrón-Giner C, Petrina Jáuregui E, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Unceta Suarez M, Vitoria Miñana I, de Las Heras J.   +21 more
europepmc   +1 more source

Hereditary Fructose Intolerance [PDF]

, 2020
openaire   +3 more sources

Neonatal Hereditary Fructose Intolerance: Diagnostic Misconceptions and the Role of Genomic Sequencing. [PDF]

JPGN Rep, 2021
Lee J, Arenth J, Kasi N.
europepmc   +1 more source

The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review. [PDF]

J Diabetes Metab Disord
Maines E, Gugelmo G, Maiorana A, Martinelli D, Vitturi N, Lenzini L, Piccoli G, Soffiati M, Franceschi R.   +8 more
europepmc   +1 more source

KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword. [PDF]

Cell Mol Life Sci, 2020
Pinheiro FC, Sperb-Ludwig F, Schwartz IVD.   +2 more
europepmc   +1 more source

Recent advances in the pathogenesis of hereditary fructose intolerance: implications for its treatment and the understanding of fructose-induced non-alcoholic fatty liver disease. [PDF]

Cell Mol Life Sci, 2020
Buziau AM, Schalkwijk CG, Stehouwer CDA, Tolan DR, Brouwers MCGJ.   +4 more
europepmc   +1 more source