Infantile Refsum's disease: A generalized peroxisomal disorder

Agamonolis, 1979, Glycogen accumulation in the central nervous system in the cerebro-hepato-renal syndrome, J. Neurol. Sci., 41, 325, 10.1016/0022-510X(79)90093-5 Aubourg, 1985, The cerebro-hepato-renal (Zellweger) syndrome: Lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma, J. Neurol. Sci., 69, 9, 10.1016/0022-510X(85)90003-6 Aubourg, 1986, Neonatal adrenoleukodystrophy, J. Neurol. Neurosurg. Psychiat., 49, 77, 10.1136/jnnp.49.1.77 Barth, 1985, A milder variant of Zellweger syndrome, Eur. J. Pediat., 144, 338, 10.1007/BF00441774 Benke, 1981, New form of adrenoleukodystrophy, Hum. Genet., 58, 204, 10.1007/BF00278712 Boltshauser, 1982, Infantile phytanic acid storage disease: a variant of Refsum's disease?, Eur. J. Pediat., 139, 317 Brown, 1982, Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids, Johns Hopkins Med. J., 151, 344 Brun, 1978, The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of pneumocystis carinii pneumonitis in two siblings, Eur. J. Pediat., 127, 229, 10.1007/BF00493539 Budden, 1986, Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long fatty acids, and pipecolic acidemia: studies in four children, J. Pediat., 108, 33, 10.1016/S0022-3476(86)80765-X Chen, 1987, Peroxisomal β-oxidation enzyme proteins in adrenoleukodystrophy: Distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy, 84, 1425 Cohen, 1983, Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy, Am. J. Ophthalmol., 96, 488, 10.1016/S0002-9394(14)77913-9 Friede, 1975, Developmental Neuropathology, 1 Garner, 1982, Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome, Br. J. Ophthalmol., 66, 422, 10.1136/bjo.66.7.422 Gilchrist, 1976, Studies of malformation syndromes of man XIB: the cerebrohepatorenal syndrome of Zellweger: comparative pathology, Eur. J. Pediat., 121, 99, 10.1007/BF00443065 Goldfischer, 1968, More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata, New Engl. J. Med., 315, 766 Goldfischer, 1983, Striated adrenocortical cells in cerebro-hepato-renal (Zellweger) syndrome, Virchows Arch. Pathol. Anat., 401, 355, 10.1007/BF00734851 Govaerts, 1984, The cerebro-hepato-renal syndrome of Zellweger (MD thesis), Sticht. Studentenpers. Nijmegen, 1 Haas, 1982, Neonatal-onset adrenoleukodystrophy in a girl, Ann. Neurol., 12, 449, 10.1002/ana.410120507 Haddad, 1976, Cerebro-hepato-renal syndrome of Zellweger, Arch. Ophthalmol., 94, 1927, 10.1001/archopht.1976.03910040633011 Jaffe, 1982, Neonatal adrenoleukodystrophy, Am. J. Path., 108, 100 Kahlke, 1974, Erhöhte Phytansäurespiegel in Plasma und Leber bei einem Kleinkind mit unklarem Hirnschaden, Klin. Wschr., 52, 651, 10.1007/BF01468803 Kelley, 1986, Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes, Am. J. Med. Genet., 23, 869, 10.1002/ajmg.1320230404 Kohn, 1969, Cerebro-hepato-renal syndrome, Helv. Paediat. Acta, 24, 352 Laroche, 1984, Malformations of the nervous system, 385 Liu, 1976, Neuropathological considerations in cerebro-hepato-renal syndrome (Zellweger's syndrome), Acta Neuropathol. (Berl.), 34, 115, 10.1007/BF00684662 Manz, 1980, New phenotypic variant of adrenoleukodystrophy, J. Neurol. Sci., 45, 245, 10.1016/0022-510X(80)90169-0 Mooi, 1983, Ultrastructure of the liver in the cerebro-hepato-renal syndrome of Zellweger, Ultrastruct. Pathol., 5, 135, 10.3109/01913128309141833 Moser, 1984, Adrenoleukodystrophy: survey of 303 cases: Biochemistry, diagnosis, and therapy, Ann. Neurol., 16, 628, 10.1002/ana.410160603 Müller-Höcker, 1981, Zur Morphologie und Diagnostik des Zellweger Syndroms, Virchows Arch. Pathol. Anat., 393, 103, 10.1007/BF00430874 Ogier, 1985, Absense of hepatic peroxisomes in a case of infantile Refsum's disease, Scand. J. Clin. Lab. Invest., 45, 767, 10.3109/00365518509155292 Passarge, 1967, Cerebro-hepato-renal syndrome, J. Pediat., 71, 691, 10.1016/S0022-3476(67)80205-1 Poll-The, 1986, Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction, J. Inher. Metab. Dis., 9, 169, 10.1007/BF01799455 Poll-The, 1987, Infantile Refsum's disease: an inherited peroxisomal disorder, Eur. J. Pediat., 146, 477, 10.1007/BF00441598 Poulos, 1984, Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellwegers syndrome?, Clin. Genet., 26, 579, 10.1111/j.1399-0004.1984.tb01107.x Schutgens, 1986, Peroxisomal disorders: A newly recognised group of genetic diseases, Eur. Pediat., 144, 430, 10.1007/BF00441734 Scotto, 1982, Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases including ultrastructural studies of the liver, J. Inher. Metab. Dis., 5, 83, 10.1007/BF01799998 Skjeldal, 1986, Phytanic acid oxidase activity in cultured skin fibroblasts, Scand. J. Clin. Lab. Invest., 46, 283, 10.3109/00365518609083671 Skjeldal, 1987, Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation, J. Neurol. Sci., 77, 87, 10.1016/0022-510X(87)90209-7 Skrede, 1978, Bile acids measured in serum during fasting as a test for liver disease, Clin. Chem., 24, 1095, 10.1093/clinchem/24.7.1095 Stokke, 1984, Refsum's disease, adrenoleukodystrophy, and the Zellweger syndrome, Scand. J. Clin. Lab. Invest., 44, 463, 10.3109/00365518409083839 Toussaint, 1981, Etude histologique et ultrastructurale des altérations retiniennes chez un enfant présentant un syndrome de Zellweger, Bull. Soc. Belge Ophthalmol., 192, 37 Van Bogaert, 1955, Une dysgénésie cérébelleuse chez un enfant du radium, Rev. Neurol. (Paris), 93, 65 Volpe, 1972, Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration, Acta Neuropathol. (Berl.), 20, 175, 10.1007/BF00686900 Wanders, 1986, Genetic relation between the Zellweger syndrome, infantile Refsum's disease and rhizomelic chrondrodysplasia punctata, New Engl. J. Med., 314, 787, 10.1056/NEJM198603203141216 Wilson, 1986, Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapy, Am. J. Med. Genet., 24, 69, 10.1002/ajmg.1320240109