Results 131 to 140 of about 1,641 (186)

New drugs: Nitisinone

Australian Prescriber, 2009
openaire   +1 more source

Alkaptonuria and Cervical Disc Herniation: Case Report. [PDF]

Int J Spine Surg
Sampaio Júnior FAU, Alves OL, Ribeiro FRB, Quidute BSQ, Ferreira RJR, Lira Filho HT, Ramiro KRB, Santos MMD, Rodrigues MS, Santos LSRD, Silva AIK, Sampaio LMQ.   +11 more
europepmc   +1 more source

Musculoskeletal Manifestations of Alkaptonuria: A Case-Based Review of Literature. [PDF]

Cureus
K A, Kumar S, M V B, Ramadurai S, Mani R.   +4 more
europepmc   +1 more source

Biochemical investigations into the impact of nitisinone treatment on the metabolome and assessment of whether nitisinone induced hypertyrosinaemia alters neurotransmitter metabolism [PDF]

, 2020
openaire   +1 more source

Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias. [PDF]

JIMD Rep
Cyr D, Maranda B, Waters PJ.
europepmc   +1 more source

A Dark Turn in the OR: Incidental Discovery of Ochronosis during Trauma Surgery: A Case Report. [PDF]

J Orthop Case Rep
Parth K, Kothari M, Haider H, Kedar M, Meshram C, Shiyam BS.   +5 more
europepmc   +1 more source

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review. [PDF]

Genes (Basel)
Barretta F, Uomo F, Verde A, Fisco M, Gallo G, Albano L, Crisci D, Mazzaccara C, Strisciuglio P, Ruoppolo M, Fecarotta S, Parenti G, Frisso G, Rossi A.   +13 more
europepmc   +1 more source

Untargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1. [PDF]

Metabolites
Sidorina A, Rizzo C, Leal-Witt MJ, Arias C, Cortés I, Cornejo V, Sacchetti E, Catesini G, Boenzi S, Dionisi-Vici C, Fuenzalida K.   +10 more
europepmc   +1 more source

The Effects of Prescribed Nitisinone (Orfadin) on the Anxiety Levels of Both FAH+/- and FAH -/- Mice [PDF]

, 2014
Zahran, Rayna Majdi
core   +1 more source

A Rare Diagnosis in a Resource-Limited Setting: Alkaptonuria in a Young Dominican Child. [PDF]

Cureus
Ortiz Hernández IY, García Grullon C, Rijo Florimon K, Bueno Fernandez LA, Espaillat Solano L.   +4 more
europepmc   +1 more source