Results 11 to 20 of about 6,468 (222)
Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience. [PDF]
JIMD RepABSTRACT Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options.
Adam AS +7 more
europepmc +2 more sources
Clinical experience with hepatorenal tyrosinemia from a single Egyptian center
PLoS ONE, 2022 Although very recently, in Egypt, sick newborn screening has included screening for hepatorenal tyrosinemia, yet, it is not yet included in nationwide neonatal screening and hence diagnosis may be delayed. The aim of this study was to analyze data of all
Hanaa El-Karaksy +6 more
doaj +2 more sources
Frontiers in Pediatrics, 2021 Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities.
Karim N. Daou +5 more
doaj +1 more source
Clinical Case Reports, 2021 Lichenoid drug eruptions (LDEs) are among well‐recognized adverse reactions that different drugs including Proton‐pump inhibitors (PPIs) are associated with.
Bahareh Abtahi‐Naeini +2 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2022 Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available.
Maximiliano L. Cacicedo +11 more
doaj +1 more source
Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy
Frontiers in Pediatrics, 2019 Tyrosinemia type III is the rarest type of tyrosinemia, because of a mutation in 4-OH-phenylpyruvate dioxygenase (HPD). This causes two different types of diseases with different modes of inheritance: tyrosinemia type III and hawkinsinuria. Hawkinsinuria
Hassan El Khatib +8 more
doaj +1 more source
Markers of cognitive function in individuals with metabolic disease: Morquio Syndrome and Tyrosinemia Type III [PDF]
, 2018 We characterized cognitive function in two metabolic diseases. MPS–IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function.
Blundell, James +8 more
core +3 more sources
A child with dendritiform eye lesions and developmental delay
American Journal of Ophthalmology Case Reports, 2022 Purpose: Tyrosinemia Type II (Richner-Hanhart syndrome) is a rare autosomal recessive disease that occurs due to deficiency in the enzyme tyrosine aminotransferase and can result in an ulcerated keratitis.
Vasiliki Gliagias, MD +2 more
doaj +1 more source
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
Orphanet Journal of Rare Diseases, 2022 Background Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransferase (TAT), and 4-hydroxyphenyl ...
Zahra Beyzaei +3 more
doaj +1 more source
A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid β Toxicity in the Drosophila Brain [PDF]
, 2017 The accumulation of amyloid β peptide (Aβ) in the brain of Alzheimer's disease (AD) patients begins many years before clinical onset. Such process has been proposed to be pathogenic through the toxicity of Aβ soluble oligomers leading to synaptic ...
Belfiori Carrasco, Lautaro Francisco +5 more
core +1 more source