Results 131 to 140 of about 1,688 (193)

New drugs: Nitisinone

Australian Prescriber, 2009
openaire   +1 more source

Anyagcsere betegségek újszülöttkori szűrése és klinikai jellemzőik [PDF]

, 2011
Baráth Ákos, Gellén Balázs, Görög Marietta, Karg Eszter, Monostori Péter, Papp Ferenc, Rózsa Melinda, Túri Sándor, Wittmann Gyula   +8 more
core  

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

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding. [PDF]

BMC Med Genomics
León-Sanabria MC, Zarante-Bahamón AM.
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

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

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

Human medicines European public assessment report (EPAR): Nitisinone MDK (previously Nitisinone MendeliKABS), nitisinone, Tyrosinemias, Date of authorisation: 24/08/2017, Revision: 3, Status: Authorised [PDF]

Case Medical Research, 2019
openaire   +1 more source

Cardiac ochronosis with severe aortic and mitral valve stenosis: a challenge case. [PDF]

J Cardiothorac Surg
Kuş MK, Bozkurt B, Durak T, Arslan İY, Kaplan M.   +4 more
europepmc   +1 more source

Evaluation of serum NEAT1 and MALAT1 expression as diagnostic biomarkers in tyrosinemia, a rare metabolic disorder. [PDF]

Orphanet J Rare Dis
Motazedian N, Mohammadi M, Azarpira N, Falamarzi K, Geramizadeh B, Dehghani SM, Hossein-Aghdaie M, Malekhosseini SA, Dara M.   +8 more
europepmc   +1 more source