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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Phenylketonurias | Legal notice |
Other terms
Phenylketonuria,Phenylketonuria II,Phenylketonuria IIs,Phenylketonuria, Atypical,Atypical Phenylketonuria,Atypical Phenylketonurias,Phenylketonurias, Atypical,Deficiency Disease, Dihydropteridine Reductase,Dihydropteridine Reductase Deficiency Disease,Phenylketonuria Type 2,Phenylketonuria Type 2s,Type 2, Phenylketonuria,Type 2s, Phenylketonuria,Phenylketonuria I,Phenylketonuria Is,Deficiency Disease, Phenylalanine Hydroxylase, Severe,Phenylketonuria, Classical,Classical Phenylketonuria,Classical Phenylketonurias,Phenylketonurias, Classical,Folling's Disease,Disease, Folling's,Phenylalanine Hydroxylase Deficiency Disease,Phenylalanine Hydroxylase Deficiency Disease, Severe,Deficiency Disease, Phenylalanine Hydroxylase,Folling Disease,Disease, Folling,Diseases, Folling,Folling Diseases,Hyperphenylalaninaemia,Hyperphenylalaninaemias,Hyperphenylalaninemia, Non-Phenylketonuric,Hyperphenylalaninemia, Non Phenylketonuric,Hyperphenylalaninemias, Non-Phenylketonuric,Non-Phenylketonuric Hyperphenylalaninemia,Non-Phenylketonuric Hyperphenylalaninemias
Description
Phenylketonurias: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
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- Brain Diseases, Metabolic, Inborn
- Amino Acid Metabolism, Inborn Errors
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- Brain Diseases, Metabolic, Inborn
Legal notice
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