The nephropathy of type I tyrosinemia after liver transplantation [PDF]
Pediatric Nephrology, 1995 Type I tyrosinemia (HTI) is an autosomally recessively inherited disease caused by deficiency of fumarylacetoacetate hydrolase. The disease manifests with liver failure, renal tubular defects, and neurologic crises. Currently orthotopic liver transplantation (OLT) enables patients to survive.
J, Laine +5 more
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Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone
Journal of Pediatric Research, 2018 Hereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities with renal and neurologic systems and hepatocellular
Havva Yazıcı +6 more
doaj +1 more source
Fifteen years of clinical liver transplantation [PDF]
, 1979 Liver transplantation in humans was first attempted more than 15 yr ago. The 1-yr survival has slowly improved until it has now reached about 50%. In our experience, 46 patients have lived for at least 1 yr, with the longest survival being 9 yr. The high
Abouna +65 more
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Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]
, 2019 Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna +6 more
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Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico
Annals of Hepatology, 2014 Introduction. Hepatorenal tyrosinemia (HT1) is a treatable, inherited, metabolic disease characterized by progressive liver failure with pronounced coagulopathy.
Cynthia Fernández-Lainez +5 more
doaj +1 more source
Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]
, 2017 Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang +3 more
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Liver transplantation before 1 year of age [PDF]
, 1987 Since 1981, 20 infants younger than 1 year of age received 26 orthotopic liver transplants. Immunosuppression was with cyclosporine and corticosteroids. Thirteen (65%) of the reciplents were discharged from the hospital.
Ascher +18 more
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Enhancing Newborn Screening for Tyrosinemia Type I [PDF]
Clinical Chemistry, 2008 Hepatorenal tyrosinemia, also known as tyrosinemia type I (Tyr-I) is an autosomal recessive inborn error of metabolism. The primary enzyme defect has been attributed to a deficiency of fumarylacetoacetase (EC 3.7.1.2)(1). Tyr-I is usually asymptomatic in newborns, but if left untreated it affects liver, kidney, bone, and peripheral nerves; in its most ...
Mark Morrissey, Kenneth A Pass
openaire +1 more source
Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia
Revista Finlay, 2023 Foundation: hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. Due to its metabolic complexity, its confirmation requires a set of highly expensive
Iovana Fuentes Cortés +2 more
doaj
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, 2022 We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín‐Rivada +19 more
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