Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects...
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Inborn errors of immunity (IEI) are a heterogenous group of disorders in which a mutation in any one of various genes that regulate the immune system causes...
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Fructose (redirect from Fructose metabolism, inborn errors)
Fructose (/ˈfrʌktoʊs, -oʊz/), or fruit sugar, is a ketonic simple sugar found in many plants, where it is often bonded to glucose to form the disaccharide...
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oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability...
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Carbohydrate metabolism (redirect from Carbohydrate metabolism, inborn errors)
Fructose malabsorption Galactosemia Glycogen storage disease Biology portal Inborn errors of carbohydrate metabolism Hitting the wall (glycogen depletion)...
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Inborn Pair (Chinese: 真愛找麻煩; pinyin: Zhen Ai Zhao Ma Fan) is a 2011 to 2012 Taiwanese romantic comedy drama television series created and developed by...
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Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of carbohydrates. An example is lactose...
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Pyruvic acid (redirect from Pyruvate metabolism, inborn errors)
Pyruvic acid (IUPAC name: 2-oxopropanoic acid, also called acetoic acid) (CH3COCOOH) is the simplest of the alpha-keto acids, with a carboxylic acid and...
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INBORN! is an electro-rock band issued from Luxembourg. Since their creation in 2002, the band has been composed of Arthur Glass (Vocals, Guitars, synthesizers)...
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deficiency. These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur when the liver or...
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Genetic disorder (redirect from Genetic Diseases, Inborn)
has the genetic disorder. Most congenital metabolic disorders known as inborn errors of metabolism result from single-gene defects. Many such single-gene...
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Organic acidemia (redirect from Inborn branched chain aminoaciduria)
Organic acidemia is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino...
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Renal physiology (redirect from Renal tubular transport, inborn errors)
Renal physiology (Latin rēnēs, "kidneys") is the study of the physiology of the kidney. This encompasses all functions of the kidney, including maintenance...
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An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.[citation needed] A variety of conditions...
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considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease, drug treatment,...
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Hypoglycemia (section Inborn errors of metabolism)
disease, hormone deficiency, tumors such as insulinomas or non-B cell tumors, inborn errors of metabolism, and several medications. Low blood sugar may occur...
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Lipid storage disorder (redirect from Lipid metabolism, inborn errors)
A lipid storage disorder (or lipidosis) is any one of a group of inherited metabolic disorders in which harmful amounts of fats or lipids accumulate in...
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Amino acid transport disorder (redirect from Amino acid transport disorders, inborn)
Amino acid transport disorders are medical conditions associated with a failure of amino acids to be absorbed from the kidney or intestine. An example...
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individual child. A congenital metabolic disease is also referred to as an inborn error of metabolism. Most of these are single-gene defects, usually heritable...
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90% of cases in children are associated with aspirin (salicylate) use. Inborn errors of metabolism are also a risk factor. The syndrome is associated...
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1857 – 28 March 1936) was an English physician who pioneered the field of inborn errors of metabolism. He also discovered alkaptonuria, understanding its...
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and reissued again in 2014, featuring additional tracks. The song "The Inborn Lifeless" is also featured on the album The Jester Race, but with a different...
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sometimes giving birth can provoke psychosis, termed postpartum psychosis inborn errors of metabolism, such as Wilson's disease, porphyria, and homocysteinemia...
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religion, the acceptance of a certain body of religious knowledge that is inborn in every person or that can be acquired by the use of reason and the rejection...
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human groups—primarily races, classes, and sexes—arise from inherited, inborn distinctions and that society, in this sense, is an accurate reflection...
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force that overrides the laws of nature. In humans, magical ability is inborn and is usually inherited. Most children of magical parents are magical themselves...
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Chomsky has maintained that syntactic knowledge is at least partially inborn, implying that children need only learn certain language-specific features...
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Inborn errors of purine–pyrimidine metabolism are a class of inborn error of metabolism disorders specifically affecting purine metabolism and pyrimidine...
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Neonatal cholestasis refers to elevated levels of conjugated bilirubin identified in newborn infants within the first few months of life. Conjugated hyperbilirubinemia...
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Congenital disorders of amino acid metabolism (redirect from Inborn errors of amino acid metabolism)
Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids. Alkaptonuria Aspartylglucosaminuria...
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