The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.
Sign Up to like & getrecommendations! Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-55780-9_6
Abstract: HT1 is a severe autosomal recessive disorder due to the deficiency of fumarylacetoacetate hydrolase (FAH), the final enzyme in the degradation of tyrosine. Before the era of treatment with 2-(2-N-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), even with newborn screening… read more here.
Keywords: liver tyrosinemia; tyrosinemia type; management; clinical management ... See more keywords
Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2022.104474
Abstract: Neurofibromatosis type 1 (NF1; OMIM #162200) is the commonest multi-systemic neurocutaneous tumour-predisposition disorder. It has an age-related complete penetrance but a highly variable inter- and intra-familial expressivity. This article summarizes the clinical features and molecular… read more here.
Keywords: neurofibromatosis type; new perspectives; single centre; old new ... See more keywords