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Hepatic organoid to model hereditary tyrosinemia type 1 and evaluate alternative therapy
La tyrosinémie héréditaire de type 1 (HT1) est une maladie métabolique autosomique récessive rare causée par une déficience de l’enzyme fumaryl-acetoacetate hydrolase (FAH) impliquée dans le catabolisme de la tyrosine. Ce déficit entraine l'accumulation de métabolites toxiques pouvant avoir différents impacts cliniques.openaire +1 more source
CRISPR/Cas9-Mediated Gene Correction in Newborn Rabbits with Hereditary Tyrosinemia Type I
Molecular Therapy, 2021Nan Li, Hui Shi, Liangxue Lai
exaly
Waddling gait and invalidating rickets as presenting signs of hereditary tyrosinemia type 1
2001The paper deals with a child presenting waddling gait and invalidating rickets due to the clinical onset of hereditary tyrosinemia type 1.
Rigante, D +4 more
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Limp due to renal tubular dysfunction as diagnostic clue for hereditary tyrosinemia type 1.
2004A child with muscular weakness and limp is reported as an example of how heterogeneous might be the clinical presentation of tyrosinemia type 1.
Rigante, Donato +2 more
openaire +1 more source
Neurologic Crises in Hereditary Tyrosinemia
New England Journal of Medicine, 1990Grant A Mitchell, Serge Melancon
exaly
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2015
Francesca Angileri, Robert M Tanguay
exaly
Francesca Angileri, Robert M Tanguay
exaly
Identifying and Testing for Hereditary Susceptibility to Common Cancers
Ca-A Cancer Journal for Clinicians, 2004exaly