Diehtu doahpagis
Ávžžuhuvvon tearbma
Brain Diseases, Metabolic, Inborn
Tiipa
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Topical Descriptor
Vuolledoahpagat
- Cerebral Amyloid Angiopathy, Familial
- Galactosemias
- Hartnup Disease
- Hepatolenticular Degeneration
- Hereditary Central Nervous System Demyelinating Diseases
- Homocystinuria
- Hyperglycinemia, Nonketotic
- Hyperlysinemias
- Leigh Disease
- Lesch-Nyhan Syndrome
- Lysosomal Storage Diseases, Nervous System
- Maple Syrup Urine Disease
- MELAS Syndrome
- Menkes Kinky Hair Syndrome
- MERRF Syndrome
- Mevalonate Kinase Deficiency
- Oculocerebrorenal Syndrome
- Phenylketonurias
- Pyruvate Carboxylase Deficiency Disease
- Pyruvate Dehydrogenase Complex Deficiency Disease
- Refsum Disease
- Refsum Disease, Infantile
- Tyrosinemias
- Urea Cycle Disorders, Inborn
- Zellweger Syndrome
Stivrentearpmat
- Brain Syndrome, Metabolic, Inborn
- Encephalopathies, Metabolic, Inborn
- Inborn Errors of Metabolism, Brain
- Inborn Metabolic Brain Diseases
- Inborn Metabolic Brain Disorders
- Inborn Metabolic Disorders, Brain
- Metabolic Brain Diseases, Inborn
- Metabolic Brain Syndrome, Inborn
- Metabolic Diseases, Inborn, Brain
Muituimerkejupmi
- general or unspecified, prefer specifics
Fuomášahttin
- Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Fuomášahttin rievdadanhistorjjás
- 2000
Eará gielain
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Finnish
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synnynnäiset aivojen aineenvaihduntasairaudet
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synnynnäiset aivojen aineenvaihduntataudit
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synnynnäiset keskushermoston aineenvaihduntasairaudet
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synnynnäiset keskushermoston aineenvaihduntataudit
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synnynnäiset metaboliset aivotaudit
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synnynnäiset metaboliset enkefalopatiat
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synnynnäiset metaboliset keskushermostosairaudet
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synnynnäiset metaboliset keskushermostotaudit
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Swedish
URI
http://www.yso.fi/onto/mesh/D020739
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