Results 181 to 190 of about 1,520,545 (236)

Serum Type III Procollagen in Children with Type I Hereditary Tyrosinemia

Journal of Pediatric Gastroenterology & Nutrition, 1999
ABSTRACTBackground:Type I hereditary tyrosinemia leads to hepatic dysfunction and fibrosis and is associated with a high risk of hepatic malignancy. Serum N‐terminal propeptide of type III procollagen is a sensitive marker of organ fibrosis of diverse origins.
S, Pitkänen, M K, Salo, K, Vettenranta, K, Näntö-Salonen, M, Heikinheimo   +4 more
openaire   +2 more sources

Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.

Molecular Genetics and Metabolism, 2019
Hereditary tyrosinemia type 1 (HT1), the most severe disease of the tyrosine catabolic pathway, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). More than 90 disease-causing variants have been identified in the fah gene.
G. Morrow, Natacha Dreumont, Maxime Bourrelle-Langlois, V. Roy, R. Tanguay   +4 more
semanticscholar   +1 more source

Single dose NTBC‐treatment of hereditary tyrosinemia type I

Journal of Inherited Metabolic Disease, 2012
AbstractNTBC (2‐(2‐nitro‐4‐trifluoromethylbenzoyl)‐1,3cyclohexanedione) is the mainstay of treatment in tyrosinemia type 1 (HT 1). The current recommendation is to divide the total daily dose of NTBC into two doses. We monitored the plasma NTBC concentrations in a series of seven patients who were changed from multiple divided doses to a single daily ...
Schlune, A., Thimm, Eva, Herebian, Diran, Spiekerkötter, Ute   +3 more
openaire   +3 more sources

[Juvenile form of tyrosinemia type I].

Klinische Padiatrie, 1990
A 1-3/12-year-old Turkish boy born of consanguineous parents was hospitalized in poor general condition with disorientation, hepatosplenomegaly, and rickets. Laboratory tests showed pronounced symptoms of hepatic dysfunction, rickets, and Fanconi's syndrome with acidosis. The diagnosis juvenile type I tyrosinemia was based on the anamnesis, hepatorenal
J, Nothjunge, W, Rosendahl
openaire   +1 more source

Current Strategies for the Treatment of Hereditary Tyrosinemia Type I

Pediatric Drugs, 2006
Hereditary tyrosinemia type I (HT-I) is the most common of the three known diseases caused by defects in tyrosine metabolism. This type of tyrosinemia is caused by a mutation in the gene coding for fumarylacetoacetate hydrolase; several mutations in this gene have been identified. The main clinical features of HT-I are caused by hepatic involvement and
Merja, Ashorn, Sari, Pitkänen, Matti K, Salo, Markku, Heikinheimo   +3 more
openaire   +2 more sources

[Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023
Qinghua Zhang, Chuan Zhang, Yu-pei Wang, Weikai Wang, R. Xu, L. Hui, Xuan Feng, Xing Wang, Lei Zheng, Bin-Bing S. Zhou, Yan Jiang, S. Hao   +11 more
semanticscholar   +1 more source

Hereditary tyrosinemia type I--an overview.

Scandinavian journal of clinical and laboratory investigation. Supplementum, 1987
Hereditary tyrosinemia type I is a metabolic disorder of autosomal recessive inheritance. The disorder is characterized by progressive liver disease and renal tubular defects with accompanying hypophosphatemic rickets. It occurs in an acute and a chronic form. Hepatocellular carcinoma is frequently encountered in the chronic form of the disorder.
openaire   +1 more source

Visceral pathology of hereditary tyrosinemia type I.

American journal of human genetics, 1990
The major pathological findings in 23 patients with hereditary tyrosinemia type I seen at the Hôpital Sainte-Justine over a 23-year period are reviewed in combination with findings in the literature. Hepatic and renal alterations are given special emphasis. Hepatic changes differ in the acute and chronic forms of the disease.
P, Russo, S, O'Regan
openaire   +1 more source

Hepatocellular Carcinoma in a Case of Tyrosinemia Type I with Novel Mutation Despite Early Treatment with NTBC

Journal of Clinical and Experimental Hepatology, 2022
Naina Chakravarty, Shivangi Tetarbe, V. Poojari, S. Mehta, I. Shah   +4 more
semanticscholar   +1 more source

Tyrosinemia Type I : A unique sonographic signature?

Learning objectives: To identify the combination of sonographic imaging findings that should raise suspicion for the diagnosis of hereditary tyrosinemia type...
openaire   +1 more source