Results 101 to 110 of about 3,205 (146)

The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism. [PDF]

Expert Opin Orphan Drugs, 2020
Thompson WS, Mondal G, Vanlith CJ, Kaiser RA, Lillegard JB.   +4 more
europepmc   +1 more source

Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66. [PDF]

Int J Neonatal Screen
Bouva MJ, Maase RE, van Elburg RM.
europepmc   +1 more source

Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66". [PDF]

Int J Neonatal Screen
Dijkstra AM, Evers-van Vliet K, Heiner-Fokkema MR, Bodewes FAJA, Bos DK, Zsiros J, van Aerde KJ, Koop K, van Spronsen FJ, Lubout CMA.   +9 more
europepmc   +1 more source

Tyrosinemia Type 1- A Rare Inborn Error of Metabolism

Journal of Medical Science And clinical Research, 2021
openaire   +1 more source

Comment on Pancreatitis in Type 1 Tyrosinemia ( AUTHOR REPLY )

, 2019
…
openaire   +1 more source

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain. [PDF]

Medicine (Baltimore), 2019
Couce ML, Sánchez-Pintos P, Aldámiz-Echevarría L, Vitoria I, Navas V, Martín-Hernández E, García-Volpe C, Pintos G, Peña-Quintana L, Hernández T, Gil D, Sánchez-Valverde F, Bueno M, Roca I, López-Ruzafa E, Díaz-Fernández C.   +15 more
europepmc   +1 more source

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1. [PDF]

Paediatr Drugs, 2019
van Ginkel WG, Rodenburg IL, Harding CO, Hollak CEM, Heiner-Fokkema MR, van Spronsen FJ.   +5 more
europepmc   +1 more source

Tyrosinemia type 1: a rare case report

Archives of Pediatric Critical Care
Hansol Song, Seong Jong Park
openaire   +1 more source

Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients. [PDF]

Nutrients, 2019
van Vliet K, Rodenburg IL, van Ginkel WG, Lubout CMA, Wolffenbuttel BHR, van der Klauw MM, Heiner-Fokkema MR, van Spronsen FJ.   +7 more
europepmc   +1 more source

Blood and Brain Biochemistry and Behaviour in NTBC and Dietary Treated Tyrosinemia Type 1 Mice. [PDF]

Nutrients, 2019
van Ginkel WG, van Vliet D, van der Goot E, Faassen MHJR, Vogel A, Heiner-Fokkema MR, van der Zee EA, van Spronsen FJ.   +7 more
europepmc   +1 more source