Refsum Disease, Infantile
"Refsum Disease, Infantile" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
| Descriptor ID |
D052919
|
| MeSH Number(s) |
C10.228.140.163.100.844 C16.320.565.189.844 C16.320.565.663.865 C18.452.132.100.844 C18.452.648.189.844 C18.452.648.663.865
|
| Concept/Terms |
Refsum Disease, Infantile- Refsum Disease, Infantile
- Disease, Infantile Refsum
- Infantile Phytanic Acid Storage Disease
- Refsum's Disease, Infantile
- Refsums Disease, Infantile
- Infantile Refsum's Disease
- Disease, Infantile Refsum's
- Infantile Refsums Disease
- Refsum Disease, Infantile Form
- Infantile Form of Phytanic Acid Storage Disease
- Infantile Refsum Disease
|
Below are MeSH descriptors whose meaning is more general than "Refsum Disease, Infantile".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Refsum Disease, Infantile [C10.228.140.163.100.844]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Refsum Disease, Infantile [C16.320.565.189.844]
- Peroxisomal Disorders [C16.320.565.663]
- Refsum Disease, Infantile [C16.320.565.663.865]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Refsum Disease, Infantile [C18.452.132.100.844]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Refsum Disease, Infantile [C18.452.648.189.844]
- Peroxisomal Disorders [C18.452.648.663]
- Refsum Disease, Infantile [C18.452.648.663.865]
Below are MeSH descriptors whose meaning is more specific than "Refsum Disease, Infantile".
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Below are the most recent publications written about "Refsum Disease, Infantile" by people in Profiles.