Results 201 to 210 of about 1,520,545 (236)

Two novel mutations involved in hereditary tyrosinemia type I

Human Molecular Genetics, 1995
M, St-Louis, J, Poudrier, D, Phaneuf, B, Leclerc, R, Laframboise, R M, Tanguay   +5 more
openaire   +2 more sources

Corneal Crystals in Patients With Tyrosinemia Types I and II

Cornea, 2023
María, Larrañaga Cores, Laura, Domínguez García, Nicolás, Estrada Vasquez, Claudia, Klein Burgos, Ana, Boto de Los Bueis, Almudena, Del Hierro Zarzuelo   +5 more
openaire   +2 more sources

Diagnosis: Hereditary Type I Tyrosinema (hepatorenal tyrosinemia)

Clinical Pediatrics, 2005
Stuart Rowe, John F. Pohl
openaire   +1 more source

Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.

Advances in Experimental Medicine and Biology, 2017
Y. Giguère, M. Berthier
semanticscholar   +1 more source

Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice

Journal of Inherited Metabolic Disease, 2016
Megan A. Hillgartner, Sara Coker, Ashton E. Koenig, M. E. Moore, Elizabeth Barnby, G. MacGregor   +5 more
semanticscholar   +1 more source

Neurologic Crises in Hereditary Tyrosinemia

New England Journal of Medicine, 1990
Grant A Mitchell, Serge Melancon
exaly  

Case report: ADHD and prognosis in tyrosinemia type 1

Frontiers in Psychiatry, 2023
exaly  

A Single Mutation of the Fumarylacetoacetate Hydrolase Gene in French Canadians with Hereditary Tyrosinemia Type I

New England Journal of Medicine, 1994
Markus Grompe
exaly  

Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I.

BMC Pediatrics
Meenakshi B Ramanna, Mahesh Kamate, Bhavana Koppad   +2 more
semanticscholar   +1 more source

Tyrosinemia Type I

2012
openaire   +1 more source