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18 relations: Ascites, Blood, Fanconi syndrome, Fumarylacetoacetate hydrolase, Genetic carrier, Gluconeogenesis, Hepatocellular carcinoma, Hepatocyte, Hepatomegaly, Jaundice, Metabolism, Nitisinone, Quebec, Saguenay–Lac-Saint-Jean, Tissue (biology), Tyrosine, Tyrosinemia, 4-Hydroxyphenylpyruvate dioxygenase.
Ascites
Ascites is the abnormal buildup of fluid in the abdomen.
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Blood
Blood is a body fluid in humans and other animals that delivers necessary substances such as nutrients and oxygen to the cells and transports metabolic waste products away from those same cells.
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Fanconi syndrome
Fanconi syndrome or Fanconi's syndrome is a syndrome of inadequate reabsorption in the proximal renal tubules of the kidney.
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Fumarylacetoacetate hydrolase
Fumarylacetoacetase is an enzyme that in humans is encoded by the FAH gene located on chromosome 15.
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Genetic carrier
A hereditary carrier (or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease.
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Gluconeogenesis
Gluconeogenesis (GNG) is a metabolic pathway that results in the generation of glucose from certain non-carbohydrate carbon substrates.
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Hepatocellular carcinoma
Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults, and is the most common cause of death in people with cirrhosis.
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Hepatocyte
A hepatocyte is a cell of the main parenchymal tissue of the liver.
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Hepatomegaly
Hepatomegaly is the condition of having an enlarged liver.
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Jaundice
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and whites of the eyes due to high bilirubin levels.
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Metabolism
Metabolism (from μεταβολή metabolē, "change") is the set of life-sustaining chemical transformations within the cells of organisms.
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Nitisinone
Nitisinone (INN), also known as NTBC (an abbreviation of its full chemical name) is a medication used to slow the effects of hereditary tyrosinemia type 1.
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Quebec
Quebec (Québec)According to the Canadian government, Québec (with the acute accent) is the official name in French and Quebec (without the accent) is the province's official name in English; the name is.
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Saguenay–Lac-Saint-Jean
Saguenay–Lac-Saint-Jean is a region in Quebec, Canada.
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Tissue (biology)
In biology, tissue is a cellular organizational level between cells and a complete organ.
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Tyrosine
Tyrosine (symbol Tyr or Y) or 4-hydroxyphenylalanine is one of the 20 standard amino acids that are used by cells to synthesize proteins.
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Tyrosinemia
Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine.
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4-Hydroxyphenylpyruvate dioxygenase
4-Hydroxyphenylpyruvate dioxygenase (HPPD), also known as α-ketoisocaproate dioxygenase (KIC dioxygenase), is an Fe(II)-containing non-heme oxygenase that catalyzes the second reaction in the catabolism of tyrosine - the conversion of 4-hydroxyphenylpyruvate into homogentisate.
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Hepatorenal tyrosinemia, Tyrosinemia type 1, Tyrosinosis.
