Results 81 to 90 of about 1,331 (171)

Emergency Management of Intoxication‐Type Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley   +1 more source

A stability indicating HPLC method for the determination of nitisinone in capsules

Indian Journal of Pharmaceutical Sciences, 2015
In this study a simple and efficient stability-indicating HPLC method with short run time was developed for the determination of nitisinone. The stress degradation of nitisinone was studied in different acidic, basic, oxidative, thermal and photolytic conditions. The chromatographic separation was achieved on a Nova-Pak C18 column using a mixture of 50
Effat, Souri, Farnaz R, Lahiji, Tannaz, Nourhashemi, H, Jalalizadeh   +3 more
openaire   +3 more sources

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

Molecular Genetics & Genomic Medicine, 2019
Background Tyrosinemia type 1 (HT1, MIM#276700) is caused by a deficiency in fumarylacetoacetate hydrolase (FAH) and it is associated with severe liver and renal disfunction. At present, the mutational FAH (15q25.1, MIM*613871) spectrum underlying HT1 in
Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva   +9 more
doaj   +1 more source

Single‐cell multi‐omics deciphers hepatocyte dedifferentiation and illuminates maintenance strategies

Cell Proliferation, Volume 58, Issue 3, March 2025.
Primary porcine hepatocytes (PPHs) are important for hepatic research and clinical applications. With 10× multiome, we studied their dynamics during dedifferentiation and identified a series of key regulators of this process. Based on these findings, we further formulated a chemical combination that effectively prevents PPH dedifferentiation.
Jie Hao, Zhenyi Wang, Jilong Ren, Shenghao Cao, Zhongchen Xie, Jinghuan Yang, Jiachen Li, Weizhe Ding, Jie Li, Zhiqiang Han, Ye Yuan, Tang Hai, Sheng Ding, Michael Q. Zhang, Minglei Shi   +14 more
wiley   +1 more source

Molecular docking analysis of nitisinone with homogentisate 1,2 dioxygenase [PDF]

Bioinformation, 2017
Alkaptonuria is an inherited disease that is caused by homogenticate accumulation. Deficiency or mutation in Homogentisate 1,2 dioxygenase gene (chromosome 3q21-q23) leads to production of incorrectly folded or truncated enzyme. Several studies indicated that competitive inhibitors of Homogentisate 1,2 dioxygenase like Nitisinone could be used for ...
openaire   +2 more sources

Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

Journal of Pediatric Research, 2018
Hereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities with renal and neurologic systems and hepatocellular
Havva Yazıcı, Ebru Canda, Esra Er, Mehmet Arda Kılınç, Sema Kalkan Uçar, Bülent Karapınar, Mahmut Çoker   +6 more
doaj   +1 more source

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet

Molecular Genetics and Metabolism Reports, 2017
Introduction: Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway.
María Ignacia García, Alicia de la Parra, Carolina Arias, Miguel Arredondo, Juan Francisco Cabello   +4 more
doaj   +1 more source

A clinical case of late diagnosis of a chronic type I tyrosinemia

Consilium Medicum
Tyrosinemia type 1 is a genetic disease mainly of the first months and years of life caused by a violation of normal tyrosine catabolism with the formation of final toxic metabolites that have a direct damaging effect on the liver and kidneys with the ...
Natalia V. Chebotareva, Elvira D. Stafeeva, Olga А. Li, Agunda M. Kuchieva, Svetlana I. Polyakova, Jamal T. Abdurakhmanov, Sergey V. Moiseev   +6 more
doaj   +1 more source

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Journal of Pediatric Research, 2018
Aim:The aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these ...
Havva Yazıcı, Esra Er, Ebru Canda, Sara Habif, Sema Kalkan Uçar, Mahmut Çoker   +5 more
doaj   +1 more source

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

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, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell   +9 more
doaj   +1 more source