Biomaterial Database

[Refsum's disease. Histological, ultrastructural and biochemical study of a peripheral nerve biopsy. Addendum to the report of 1966]. 1970

M Fardeau, and R Abelanet, and P Laudat, and M Bonduelle

UI	MeSH Term	Description	Entries
D008055	Lipids	A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)	Lipid
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D010525	Peripheral Nerves	The nerves outside of the brain and spinal cord, including the autonomic, cranial, and spinal nerves. Peripheral nerves contain non-neuronal cells and connective tissue as well as axons. The connective tissue layers include, from the outside to the inside, the epineurium, the perineurium, and the endoneurium.	Endoneurium,Epineurium,Perineurium,Endoneuriums,Epineuriums,Nerve, Peripheral,Nerves, Peripheral,Perineuriums,Peripheral Nerve
D012035	Refsum Disease	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.	HMSN Type IV,Heredopathia Atactica Polyneuritiformis,Neuropathy, Hereditary Motor and Sensory, Type IV,Phytanic Acid Storage Disease,Adult Refsum Disease,Classic Refsum Disease,HMSN 4,HMSN IV,Hemeralopia Heredoataxia Polyneuritiformis,Hereditary Motor And Sensory Neuropathy IV,Hereditary Motor and Sensory Neuropathy Type IV,Hereditary Motor and Sensory Neuropathy, Type IV,Hereditary Type IV Motor and Sensory Neuropathy,Phytanic Acid Oxidase Deficiency,Refsum Disease, Adult,Refsum Disease, Classic,Refsum Disease, Phytanic Acid Oxidase Deficiency,Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency,Refsum Syndrome,Refsum's Disease,Refsum's Syndrome,Refsum-Thiebaut Syndrome,Adult Refsum Diseases,Classic Refsum Diseases,Disease, Adult Refsum,Disease, Classic Refsum,Disease, Refsum,Disease, Refsum's,Diseases, Adult Refsum,Diseases, Classic Refsum,HMSN IVs,Heredoataxia Polyneuritiformis, Hemeralopia,Polyneuritiformis, Hemeralopia Heredoataxia,Polyneuritiformis, Heredopathia Atactica,Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency,Refsum Diseases, Adult,Refsum Diseases, Classic,Refsum Thiebaut Syndrome,Refsum-Thiebaut Syndromes,Refsums Disease,Refsums Syndrome,Syndrome, Refsum,Syndrome, Refsum's,Syndrome, Refsum-Thiebaut,Syndromes, Refsum-Thiebaut
D003594	Cytoplasmic Granules	Condensed areas of cellular material that may be bounded by a membrane.	Cytoplasmic Granule,Granule, Cytoplasmic,Granules, Cytoplasmic
D005260	Female		Females
D006651	Histocytochemistry	Study of intracellular distribution of chemicals, reaction sites, enzymes, etc., by means of staining reactions, radioactive isotope uptake, selective metal distribution in electron microscopy, or other methods.	Cytochemistry
D006652	Histological Techniques	Methods of preparing tissue for examination and study of the origin, structure, function, or pathology.	Histologic Technic,Histologic Technics,Histologic Technique,Histologic Techniques,Histological Technics,Technic, Histologic,Technics, Histologic,Technique, Histologic,Techniques, Histologic,Histological Technic,Histological Technique,Technic, Histological,Technics, Histological,Technique, Histological,Techniques, Histological
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults