Results 81 to 90 of about 1,764 (178)
Comparative analysis of gene and disease selection in genomic newborn screening studies
Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 945-970, September 2024.Abstract Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to ongoing gNBS pilot studies is the selection of target diseases and associated genes to be included.
Isabel R. Betzler +8 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2018 Background: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700).
Hao Yang +9 more
doaj +1 more source
International Journal of Preventive Medicine, 2013 Background: Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase enzyme.
Seyed Mohsen Dehghani +4 more
doaj
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family [PDF]
, 2012 Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13 ...
Ankleshwaria, Chitra M. +3 more
core +2 more sources
FEBS Open Bio, Volume 14, Issue 6, Page 1001-1010, June 2024.TOP2 poisons such as etoposide are widely employed anti‐cancer drugs, but their use is associated with DNA damage that can lead to therapy‐related acute leukaemia. Etoposide is activated by the myeloid‐specific enzyme myeloperoxidase (MPO) to more DNA damaging forms, and we show that MPO inhibition reduces etoposide‐induced DNA damage in bone marrow ...
Ian G. Cowell, Caroline A. Austin
wiley +1 more source
Cytosolic persistence of mouse brain CYP1A1 in chronic heme deficiency [PDF]
, 2017 Previous work has demonstrated that the function of extrahepatic cytochrome P450 CYP1A1 is dependent on the availability of heme. CYP1A1 is involved in the activation of polyaromatic hydrocarbons.
Hoffmann, Francine +3 more
core
Analytical Science Advances, Volume 5, Issue 5-6, June 2024.Abstract Blood microsampling (BµS) offers an alternative to conventional methods that use plasma or serum for profiling human health, being minimally invasive and cost effective, especially beneficial for vulnerable populations. We present a non‐systematic review that offers a synopsis of the analytical methods, applications and perspectives related to
Pauline Couacault +7 more
wiley +1 more source
Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)
The Application of Clinical Genetics, 2017 Anibh Martin Das Department of Pediatrics, Hannover Medical School, Hannover, Germany Abstract: Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product ...
Das AM
doaj
Neurotoxicity and aggressiveness triggered by low-level lead in children: a review [PDF]
, 2009 Lead-induced neurotoxicity acquired by low-level long-term exposure has special relevance for children. A plethora of recent reports has demonstrated a direct link between low-level lead exposure and deficits in the neurobehavioral-cognitive performance ...
BECHARA, Etelvino José Henriques +3 more
core +1 more source