Results 181 to 190 of about 3,625 (203)

Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1

European Journal of Pediatrics, 2009
In most countries, hereditary tyrosinemia type 1 is not included in routine newborn screening.We present the case of a female newborn with prenatal diagnosis of hereditary tyrosinemia type 1 and clear identification of this disorder by succinylacetone measurement in cord blood and peripheral blood immediately after birth.
Schlump, Jan-Ulrich, Mayatepek, Ertan, Spiekerkoetter, Ute   +2 more
openaire   +2 more sources

CRISPR/Cas9-Mediated Gene Correction in Newborn Rabbits with Hereditary Tyrosinemia Type I

Molecular Therapy, 2021
Nan Li, Hui Shi, Liangxue Lai
exaly  

Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation

Human Mutation, 1996
M, St-Louis, J, Poudrier, R M, Tanguay
openaire   +2 more sources

Hereditary tyrosinemia type 1

Current Opinion in Gastroenterology, 1991
openaire   +1 more source

Hereditary tyrosinemia type-1 – A rare disease with typical radiological features

Clinical History: A 2-year-old girl came with complaints of difficulty in weight gain, abdominal distension, and abdominal pain, which was mild in intensity. There was a history of global developmental delay in motor skills. She was immunised adequately for her age. She was born to a non-consanguineous couple with full-term vaginal delivery.
openaire   +1 more source

Waddling gait and invalidating rickets as presenting signs of hereditary tyrosinemia type 1

2001
The paper deals with a child presenting waddling gait and invalidating rickets due to the clinical onset of hereditary tyrosinemia type 1.
Rigante, D, Holme, E, Segni, G, Stabile, A, Caradonna, P   +4 more
openaire   +1 more source

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin

Molecular Genetics and Metabolism, 2011
Faiqa Imtiaz, Bashayer Al-Mubarak, Hanaa El-Karaksy   +2 more
exaly  

HEREDITARY TYROSINEMIA

Acta Paediatrica, International Journal of Paediatrics, 1969
R Zetterström
exaly  

Review for "Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children"

2023
  +5 more sources

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