Results 101 to 110 of about 306 (158)

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood. [PDF]

Medicina (Kaunas)
Rokaitė R, Čibirkaitė A, Zeleckytė V, Lazdinytė G, Dženkaitis M.   +4 more
europepmc   +1 more source

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines. [PDF]

J Inherit Metab Dis
Kuypers AM, Das AM, Maiorana A, Heiner-Fokkema MR, van Spronsen FJ, TT1 MetabERN Professional Collaboration Group.   +5 more
europepmc   +1 more source

Severe neurological crisis in adult patients with Tyrosinemia type 1. [PDF]

Ann Clin Transl Neurol, 2020
Dawson C, Ramachandran R, Safdar S, Murphy E, Swayne O, Katz J, Newsome PN, Geberhiwot T, Geberhiwot T.   +8 more
europepmc   +1 more source

Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype-phenotype spectrum. [PDF]

Mol Genet Genomic Med
Han D, Wang L, Zhao C, Li J, Huang C, Song W, Wang H, Li X, Tao Y.   +8 more
europepmc   +1 more source

Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. [PDF]

Orphanet J Rare Dis
Ijaz A, Abbas S, Shabbir M, Badshah Y, Abid F, Afsar T, Razak S.   +6 more
europepmc   +1 more source

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. [PDF]

J Inherit Metab Dis
Das AM, Ballhausen D, Haas D, Häberle J, Hagedorn T, Janson-Mutsaerts C, Janzen N, Sander J, Freisinger P, Karall D, Meyer U, Mönch E, Morlot S, Rosenbaum-Fabian S, Scholl-Bürgi S, Vom Dahl S, Weinhold N, Zeman J, Lange K.   +18 more
europepmc   +1 more source

The health care experiences of children and young people with a life-limiting condition and their parents : Scoping review protocol [PDF]

, 2021
Beresford, Bryony Anne, Mukherjee, Suzanne Kathleen Mary, Richardson, Natalie, Wright, Kath   +3 more
core  

Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This. [PDF]

Children (Basel)
Kadıoğlu Yılmaz B, Bağcı Z.
europepmc   +1 more source

Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2.

Indian J Ophthalmol, 2018
Mohite AA, Abbott J.
europepmc   +1 more source

Ex vivo gene editing and cell therapy for hereditary tyrosinemia type 1. [PDF]

Hepatol Commun
Ates I, Stuart C, Rathbone T, Barzi M, He G, Major AM, Shankar V, Lyman RA, Angner SS, Mackay TFC, Srinivasan S, Farris AB, Bissig KD, Cottle RN.   +13 more
europepmc   +1 more source