Results 81 to 90 of about 3,517 (179)

Characterization of a human induced pluripotent stem cell line (FDCHi015-A) derived from PBMCs of a patient harbouring ALDOB mutation

Stem Cell Research
Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disease associated with a mutation in the aldolase B gene on chromosome 9q31.
Tingting Yin, Yunfei Liao, Xu Li, Huijun Wang, Bingbing Wu, Xinran Dong   +5 more
doaj   +1 more source

Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]

, 2006
Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth, S N, Sarbadhikari, S, Kavitha   +2 more
core   +1 more source

Anesthetic management of a patient with hereditary fructose intolerance and phenylketonuria

The Turkish Journal of Pediatrics, 1993
This is a report of a five-year-old girl with phenylketonuria (PKU) and hereditary fructose intolerance (HFI) who underwent elective strabismus surgery.
V Celiker, O Dural, K Erdem
doaj  

Pediatric Bipolar disorder, in Malta is it under-diagnosed? [PDF]

, 2012
The objective of this retrospective study was to determine the frequency of Bipolar Disorder in children and adolescents referred to the Child Guidance Clinic (CGC), St. Luke’s Hospital, Malta, over a year.
Camilleri, Nigel, Cassar Parnis, Abigail, Cassar, Joseph, Zahra, Anthony   +3 more
core  

Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +1 more source

Abscisic Acid Supplementation Rescues High Fat Diet-Induced Alterations in Hippocampal Inflammation and IRSs Expression [PDF]

, 2018
Accumulated evidence indicates that neuroinflammation induces insulin resistance in the brain. Moreover, both processes are intimately linked to neurodegenerative disorders, including Alzheimer’s disease.
Atef, Mariam, Beltrán Bretones, María Teresa, Olucha-Bordonau, Francisco E, Ribes-Navarro, Alberto, Sánchez Sarasúa de la Bárcena, Sandra, Sánchez-Pérez, Ana María   +5 more
core   +2 more sources

Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose? [PDF]

, 2018
peer reviewedBackground: High fructose intake causes hepatic insulin resistance and increases postprandial blood glucose, lactate, triglyceride, and uric acid concentrations.
DEBRAY, François-Guillaume, DAMJANOVIC, Katarina, ROSSET, Robin, MITTAZ-CRETOL, Lauréane, ROUX, Clothilde, BRAISSANT, Olivier, BARBEY, Frédéric, BONAFE, Luisa, DE BANDT, Jean-Pascal, TAPPY, Luc, PAQUOT, Nicolas, TRAN, Christel   +11 more
core   +1 more source

Non-alcoholic fatty liver in hereditary fructose intolerance [PDF]

, 2019
Background: Non-alcoholic fatty liver disease (NAFLD) is characterized by fat accumulation affecting >5% of the liver volume that is not explained by alcohol abuse.
Alcalde, C., Aldámiz-Echevarría, L., Andrade, F., Blasco-Alonso, J., Bueno, M., Concepción García, M., Couce, M.L., de las Heras, J., Ruiz, M., Suárez, R., Villate, O., Vitoria, I.   +11 more
core   +2 more sources

Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association

Frontiers in Genetics
ObjectiveFructose-1,6-bisphosphatase deficiency (FBP1D) is a rare inborn error due to mutations in the FBP1 gene. The genetic spectrum of FBP1D in China is unknown, also nonspecific manifestations confuse disease diagnosis.
Qi Ni, Qi Ni, Meiling Tang, Xiang Chen, Yulan Lu, Bingbing Wu, Huijun Wang, Wenhao Zhou, Wenhao Zhou, Wenhao Zhou, Xinran Dong, Xinran Dong   +11 more
doaj   +1 more source

LABRAD : Vol 39, Issue 2 - December 2013 [PDF]

, 2013
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core   +1 more source