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- etymologie
Wat (wie) is dysmetabolic oligophrenia - definitie
JOUBERT SYNDROME (JS) IS CHARACTERIZED BY CONGENITAL MALFORMATION OF THE BRAINSTEM AND AGENESIS OR HYPOPLASIA OF THE CEREBELLAR VERMIS LEADING TO AN ABNORMAL RESPIRATORY PATTERN, NYSTAGMUS, HYPOTONIA, ATAXIA, AND DELAY IN ACHIEVING MOTOR MILESTONES
Oligophreny; Oligophernia; Oligophrenia
Metabolic syndrome
DISEASE DIAGNOSED BY A CLUSTER OF AT LEAST 3 OUT OF THE FOLLOWING CONDITIONS: ABDOMINAL OBESITY, HIGH BLOOD PRESSURE, HIGH BLOOD SUGAR, HIGH SERUM TRIGLYCERIDES, LOW SERUM HIGH-DENSITY LIPOPROTEIN
Metabolic syndrome X; Dysmetabolic syndrome; Syndrome X (metabolic); Metabolic syndrome x; Insulin Resistance Syndrome; Metabolic Syndrome; Metabolic Syndrome X; Metabolic dysfunction; Metabolic syndromes; Draft:Cardiometabolic syndrome
Metabolic syndrome is a clustering of at least three of the following five medical conditions: abdominal obesity, high blood pressure, high blood sugar, high serum triglycerides, and low serum high-density lipoprotein (HDL).
COACH syndrome
A RARE AUTOSOMAL RECESSIVE DISORDER CHARACTERISED BY CEREBELLAR VERMIS HYPOPLASIA, OLIGOPHRENIA (DEVELOPMENTAL DELAY/MENTAL RETARDATION), ATAXIA, COLOBOMA, AND HEPATIC FIBROSIS.
User:Drpsdeb/sandbox; Draft:COACH Syndrome; COACH Syndrome; Joubert syndrome with hepatic defect
COACH syndrome, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis.
phenylketonuria
![Pathophysiology of phenylketonuria, which is due to the absence of functional phenylalanine hydroxylase (classical subtype) or functional enzymes for the recycling of [[tetrahydrobiopterin]] (new variant subtype) utilized in the first step of the metabolic pathway.](https://commons.wikimedia.org/wiki/Special:FilePath/Inborn errors of metabolism of phenylalanine and tyrosine.svg?width=200 "Pathophysiology of phenylketonuria, which is due to the absence of functional phenylalanine hydroxylase (classical subtype) or functional enzymes for the recycling of [[tetrahydrobiopterin]] (new variant subtype) utilized in the first step of the metabolic pathway.")
AMINO ACID METABOLIC DISORDER THAT IS CHARACTERIZED BY A MUTATION IN THE GENE FOR THE HEPATIC ENZYME PHENYLALANINE HYDROXYLASE (PAH), RENDERING IT NONFUNCTIONAL
PKU; Phenylketonurics; Phenylketonurias; Følling's disease; Phenylketonuric; Pheylketonuria; Phenylketonuria, maternal; Deficiency disease, Phenylalanine Hydroxylase; Classical Phenylketonuria; Folling's Disease; Folling disease; Phenylketuronics; PKU disease; Folling's disease; Phenylketurnia; Phenylpyruvic oligophrenia; Phenylketonuria - PKU; Folling's syndrome; Phenylketoturia; Phenylalanine hydroxylase deficiency; Phenylalaninemia; Phenylketonuria type II; Phenylketonuric embryopathy; Maternal phenylketonuria; Corn-free diet; Tetrahydrobiopterin-deficient hyperphenylalaninemia; Corn-Free Diet
[?fi:n??l?ki:t?(?)'nj??r??, ?f?n?l-]
¦ noun Medicine an inherited inability to metabolize phenylalanine which can result in brain and nerve damage.
Wikipedia
Joubert syndrome
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified in 1969 by pediatric neurologist Marie Joubert in Montreal, Quebec, Canada, while working at the Montreal Neurological Institute and McGill University.
