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Inborn error of metabolism is a rare enzyme deficiency; children with inborn errors of metabolism do not have certain enzymes that the body requires to maintain organ functions.
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∙ 13y ago
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What has the author Vicky Allen LeGrys written?
Vicky Allen LeGrys has written: 'The Laboratory diagnosis of selected inborn errors of metabolism' -- subject(s): Diagnosis, Inborn Errors Metabolism, Inborn errors of Metabolism, Laboratory Diagnosis, Methods
What has the author Jerome Julius Kinzel written?
Jerome Julius Kinzel has written: 'Lysine metabolism in Rhodotorula glutinis' -- subject(s): Pipecolic acid oxidase, Lysine, Rhodotorula glutinis, Microbial metabolism
Who is Hamartia in Antigone?
It is not a person. Hamartia, from the Greek for "error," is an error or flaw that contributes to the downfall of a tragic hero
What is error code E0000225?
Error code E0000225 appears when a mobile device is having trouble connecting to the PC.
What is orthopaedically handicapped?
The one incapacitated to use bony structures of the body has orthopedic handicap. Maybe the bones have been fractured or have congenital (by birth, inborn) defects, eventually the person is unable to make use of them.
What inborn error of metabolism affects pancreatic secretion of digestive fluids?
cystic fibrosis ;)
What can inborn errors of metabolism cause?
Inborn errors of metabolism can disrupt normal biochemical processes in the body, leading to a variety of symptoms such as developmental delays, intellectual disability, seizures, organ dysfunction, and metabolic imbalances. If left untreated, these conditions can result in serious health complications and potentially life-threatening situations for affected individuals. Early detection and management are crucial for improving outcomes for individuals with inborn errors of metabolism.
Who discovered inborn error of metabolism?
He suggested that the symptoms of an inherited disease reflects a person's ability to make a particular enzyme.
What has the author Vicky Allen LeGrys written?
Vicky Allen LeGrys has written: 'The Laboratory diagnosis of selected inborn errors of metabolism' -- subject(s): Diagnosis, Inborn Errors Metabolism, Inborn errors of Metabolism, Laboratory Diagnosis, Methods
What is the condition known as phenylketonuria?
Phenylketonuria (PKU) is an inborn error in metabolism that prevents the body from using phenylalanine, an amino acid necessary for normal growth and development.
What inborn metabolism problem can result in mental retardation?
Single gene defects such as phenylketonuria (PKU) and other inborn errors of metabolism may also cause mental retardation if they are not found and treated early.
What has the author Carol Kari written?
Carol Kari has written: 'Understanding Gaucher disease' -- subject(s): Gaucher's disease, Genetic aspects, Genetic aspects of Gaucher's disease, Inborn errors of Metabolism, Metabolism, Inborn errors of, Treatment
What has the author David J Galton written?
David J. Galton has written: 'Molecular Genetics and Common Metabolic Disease' 'Molecular genetics of common metabolic disease' -- subject(s): Atherosclerosis, Diabetes, Disorders, Familial & genetic, Genetic aspects, Genetic aspects of Atherosclerosis, Genetic aspects of Diabetes, Genetic aspects of Hyperlipidemia, Genetic aspects of Inborn errors of metabolism, Hyperlipidemia, Inborn Errors Metabolism, Inborn errors of Metabolism, Metabolism, Molecular genetics
What has the author Morton F Goldberg written?
Morton F. Goldberg has written: 'Genetic and metabolic eye disease' -- subject- s -: Diseases, Eye, Genetic aspects, Inborn errors of Metabolism, Metabolism, Inborn errors of, Ocular manifestations of general diseases
What has the author Reinhard L Friede written?
Reinhard L. Friede has written: 'Developmental neuropathology' -- subject(s): Developmental neurobiology, In infancy & childhood, In infancy and childhood, Inborn Errors Metabolism, Inborn errors of Metabolism, Nervous System Diseases, Pathology, Pediatric neurology
What has the author Sally Kelly written?
Sally Kelly has written: 'Birth Defects' 'Biochemical methods in medical genetics' -- subject(s): Biochemical Genetics, Clinical chemistry, Diagnosis, Inborn Errors Metabolism, Inborn errors of Metabolism, Laboratory Diagnosis, Laboratory manuals, Mass Screening, Medical genetics, Technique
What has the author Jane Elizabeth Collins written?
Jane Elizabeth Collins has written: 'Isotope turnover studies in children with inborn errors of metabolism'
