Results 161 to 170 of about 1,641 (186)

Characterization of Treatment Utilization in a Metabolic Genetics Clinic. [PDF]

J Pediatr Pharmacol Ther
Riedy M, Briggs J, Huang T.
europepmc   +1 more source

Validation of Clinical-Grade Electroporation Systems for CRISPR-Cas9-Mediated Gene Therapy in Primary Hepatocytes for the Correction of Inherited Metabolic Liver Disease. [PDF]

Cells
Gibson J, Dhungana A, Pokhrel M, Arthur B, Suresh P, Adebayo O, Cottle RN.   +6 more
europepmc   +1 more source

Emotional and behavioural functioning in children with tyrosinaemia type 1. [PDF]

Pediatr Endocrinol Diabetes Metab
Pohorecka M, Biernacki M, Jakubowska-Winecka A, Leszczynska-Iwanicka K, Rokicki D, Pokora P, Perkowska B, Pajdowska M, Biernacka M.   +8 more
europepmc   +1 more source

Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children. [PDF]

Clin Med Insights Pediatr
Khan SA, Fakih M, Taufiq N, Ahmerin A, Bangash A, Iqbal Malik M.   +5 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

[New drugs; nitisinone].

Nederlands tijdschrift voor geneeskunde, 2007
Nitisinone is an inhibitor of 4-hydroxyphenyl-pyruvate dioxygenase (4HPPD). Its rare area of use is hereditary tyrosinaemia, a life-threatening disease in which the last step in the catabolism of tyrosine cannot be taken due to the absence of an enzyme.
A F, Cohen, H, van Bronswijk
openaire   +2 more sources

The Role of Nitisinone in Tyrosine Pathway Disorders

Current Rheumatology Reports, 2014
Nitisinone 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione (NTBC), an effective herbicide, is the licensed treatment for the human condition, hereditary tyrosinaemia type 1 (HT-1). Its mode of action interrupts tyrosine metabolism through inhibition of 4-hydroxyphenylpyruvate dioxygenase (HPPD).
Edward, Lock, Lakshminarayan R, Ranganath, Oliver, Timmis   +2 more
openaire   +2 more sources

Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC)

Clinica Chimica Acta, 2011
Quantification of nitisinone, 2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione (NTBC) has been repeatedly described. Nevertheless monitoring of NTBC has not yet become part of routine therapy surveillance in tyrosinaemia type I (OMIM 276700). We developed a blood spot test to facilitate collection and transport of samples.
Johannes, Sander, Nils, Janzen, Michael, Terhardt, Stefanie, Sander, Gülden, Gökcay, Mübeccel, Demirkol, Isıl, Ozer, Michael, Peter, Anibh M, Das   +8 more
openaire   +2 more sources

Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1

Drugs, 2006
Hereditary tyrosinaemia type 1 (HT-1) is a rare genetic disease caused by mutations in the gene for the enzyme fumarylacetoacetase. It usually presents with liver failure but can be manifest as chronic liver disease. Rarely, it may present with nonhepatic manifestations such as renal dysfunction, porphyria-like illness or cardiomyopathy.
openaire   +2 more sources