Diehtu doahpagis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Nervous System Malformations
Hereditary Sensory and Motor Neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Hereditary Sensory and Motor Neuropathy
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Hereditary Sensory and Motor Neuropathy
...
Neuromuscular Diseases
Peripheral Nervous System Diseases
Polyneuropathies
Hereditary Sensory and Motor Neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Peroxisomal Disorders
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Peroxisomal Disorders
...
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Ávžžuhuvvon tearbma
Refsum Disease
Tiipa
-
Topical Descriptor
Badjedoaba
Stivrentearpmat
- Disease, Refsum's
- Refsum's Disease
- Refsums Disease
- Refsum's Syndrome
- Refsums Syndrome
- Refsum Syndrome
- Refsum Thiebaut Syndrome
- Refsum-Thiebaut Syndrome
- Refsum-Thiebaut Syndromes
- Syndrome, Refsum
- Syndrome, Refsum's
- Syndrome, Refsum-Thiebaut
- Syndromes, Refsum-Thiebaut
Muituimerkejupmi
- do not confuse with REFSUM DISEASE, INFANTILE
Fuomášahttin
- An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
Fuomášahttin rievdadanhistorjjás
- 1996 (1964)
Eará gielain
-
Finnish
-
heredopathia atactica polyneuritiformis
-
morbus Refsum
-
Refsum
-
Refsums sjukdom
-
Swedish
URI
http://www.yso.fi/onto/mesh/D012035
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