Heredopathia atactica polyneuritiformis: Refsum's disease

Thiebaut, 1939, Deux syndromes otoneuro-oculistiques d'origine congenitale Leurs rapports avec les phacomatoses de van der Hoeve et autres dys-phasies neuro-ecodermiques, Revue Neurologique, 72, 71

Thiebaut, 1961, Maladie de Refsum, Revue Neurologique, 104, 152

Refsum, 1945, Heredoataxia Hemeralopica Polyneuritiformis -et tidligere ikke beskrevet familiaert syndrom, Nordisk Me-dicin, 28, 2682

Refsum, 1946, Heredopathia Atactica Polyneuritiformis: A familial syndrome not hitherto described. A contribution to the clinical study of the hereditary disorders of the nervous system, Acta Psychiatr Scand

Klenk, 1963, Uber das Vorkommen der 3.7.11.15-Tetramethyl-hexadecansaure (Phytansaure) in den Cholesterinestern und anderen Lipoidfraktionen der organe bei einem Krankheitsfall unbekannter Genese (Verdact auf Heredopathia Atactica Polyneuritiformis Refsumsyn-drome), Hoppe-Seyler Zeits Physiol Chem, 333, 133, 10.1515/bchm2.1963.333.1.133

Stokke, 1967, Alpha-oxidation as an alternative pathway for the degradation of branched-chained fatty acids in man, and its failure in patients with Refsum's Disease, Biochim Biophys Acta, 144, 271, 10.1016/0005-2760(67)90157-9

Stokke, 1975, Peripheral neuropathy, 872

Steinberg, 1978, Metabolic basis of inherited disease, 687

Eldjarn, 1976, Handbook of clinical neurology: Metabolic and deficiency diseases of the nervous system, vol 27, 519

Baxter, 1968, Absorption of chlorophyll and phytol in normal man and in patients with Refsum's disease, J Lip Res, 9, 636, 10.1016/S0022-2275(20)42711-7

Gibberd, 1979, Heredopathia Atactica Polyneuritiformis treated by diet and plasma exchanges, Lancet, i, 575, 10.1016/S0140-6736(79)91005-5

Billimoria, 1982, Metabolism of phytanic acid in Refsum's disease, Lancet, i, 194, 10.1016/S0140-6736(82)90760-7

Steinberg, 1970, Phytanic acid in patients with Refsum's syndrome and response to dietary treatment, Arch Int Med, 125, 75, 10.1001/archinte.1970.00310010077006

Masters-Thomas, 1980, Heredopathia Atactica Polyneuritiformis 2. Estimation of phytanic acid in food, J Hum Nutr, 34, 251

Brenton, 1982, 3-methyladipate excretion in Refsum's disease, Lancet, i, 624, 10.1016/S0140-6736(82)91780-9

Diengott, 1967, New type of needle for obtaining large samples of human adipose tissue, J Lip Res, 8, 58, 10.1016/S0022-2275(20)38944-6

Durnin, 1974, Body fat assessed from total body density and its estimation from skinfold thickness measured in 481 men and women aged 16 to 72 years, Br J Nutr, 32, 77, 10.1079/BJN19740060

Womersley, 1977, A comparison of the skinfold method with extent of overweight and various weight-height relationships in the assessment of obesity, Br J Nutr, 38, 271, 10.1079/BJN19770088

Masters-Thomas, 1980, Heredopathia Atactica Polyneuritiformis. 1. Clinical features and dietary management, J Hum Nutr, 34, 245

Gordon, 1959, Refsum's syndrome. Heredopathia Atactica Polyneuritiformis. A report of three cases, including a study of the cardiac pathology, Brain, 82, 41, 10.1093/brain/82.1.41

Richterich, 1965, Refsum's disease (Heredopathia Atactica Polyneuritiformis). An inborn error of lipid metabolism with storage of 3, 7, 11, 15, tetramethyl hexadecanoic acid. A review of the clinical findings, Hu-mangenetik, 1, 322, 10.1007/BF00273974

Richterich, 1965, Refsum's disease (Heredopathia Atactica Polyneuritiformis). An inborn error of lipid metabolism with storage of 3, 7, 11, 15, tetramethyl hexadecanoic acid. Formal genetics, Humangenetik, 1, 333

Wall, 1979, Skeletal changes in Refsum's disease, Clinical radiology, 30, 657, 10.1016/S0009-9260(79)80014-8

Refsum, 1975, Peripheral neuropathy, 868

Fleming, 1957, Refsum's syndrome. An unusual hereditary neuropathy, Neurology, 7, 476, 10.1212/WNL.7.7.476

Ashenhurst, 1958, Refsum's syndrome affecting a brother and two sisters, Br Med J, 2, 415, 10.1136/bmj.2.5093.415

Campbell, 1967, Refsum's syndrome in a Gloucestershire family, BrMed J, 3, 777

Quinlan, 1970, Refsum's syndrome: Report of three cases, J Neurol Neurosurg Psychiatry, 33, 817, 10.1136/jnnp.33.6.817

Dykes, 1978, Epidermal metabolism in Heredopathia Atactica Polyneuritiformis (Refsum's disease), J Invest Dermatol, 70, 126, 10.1111/1523-1747.ep12258532

Blanchet-Bardon, 1978, The Ichthyoses, 65, 10.1007/978-94-010-9851-9_9

Kahlke, 1965, Refsum's disease (Heredopathia Atactica Polyneuritiformis). An inborn error of metabolism with storage of 3, 7, 11, 15, Tetramethyl Hexadecanoic Acid II. Isolation of the storage product, Am J Med, 39, 237, 10.1016/0002-9343(65)90047-1

Lundberg, 1972, Heredopathia Atactica Polyneuritiformis (Refsum's disease). Experience of dietary treatment and plasmapheresis, Eur Neurol, 8, 309, 10.1159/000114592

Penvich, 1978, Advances in neurology, 151

Moser, 1980, Therapeutic trial of plasmapheresis in phytanic acid Refsum's disease, Birth defects, 16, 491

Pabico, 1981, Renal involvement in Refsum's disease, Am J Med, 70, 1136, 10.1016/0002-9343(81)90889-5

Gibberd, 1980, Heredopathia Atactica Polyneuritiformis and its management with plasma exchange, Plasma Ther, 1, 17

Eldjarn, 1966, Dietary effects on serum phytanic acid and on clinical manifestations in heredopathia Atactica Polyneuritiformis, Lancet, i, 691, 10.1016/S0140-6736(66)91632-1

Dry, 1976, Apropos de deux nouveaux cas de maladie de Refsum, Sem Hôpi-taux Paris, 52, 1675