Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
暂无分享,去创建一个
A. Poulos | R. Weleber | S. Budden | N. Kennaway | N. Buist
[1] A. Poulos,et al. Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? , 1984, Clinical genetics.
[2] A. Poulos,et al. Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease , 1984, Neurology.
[3] H. Moser,et al. Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. , 1984, American journal of medical genetics.
[4] Golder N Wilson,et al. Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. , 1984, The New England journal of medicine.
[5] A. Tongue,et al. Ophthalmic manifestations of infantile phytanic acid storage disease. , 1984, Archives of ophthalmology.
[6] H. Moser,et al. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. , 1984, The New England journal of medicine.
[7] R. Wanders,et al. Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome. , 1984, Biochemical and biophysical research communications.
[8] A. Poulos,et al. Patterns of Refsum's disease. Phytanic acid oxidase deficiency. , 1984, Archives of disease in childhood.
[9] S. Berkovic,et al. Adrenomyeloneuropathy--clinical and biochemical diagnosis. , 1983, Australian and New Zealand journal of medicine.
[10] H. Moser,et al. Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy. , 1983, American journal of ophthalmology.
[11] H. Moser,et al. Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. , 1982, The Johns Hopkins medical journal.
[12] J. C. Ward,et al. Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome. , 1982, Archives of neurology.
[13] B. Burton,et al. Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings. , 1981, The Journal of pediatrics.
[14] H. Moser,et al. Adrenoleukodystrophy , 1998, Neurology.
[15] Y. Kishimoto,et al. New phenotypic variant of adrenoleukodystrophy Pathologic, ultrastructural, and biochemical study in two brothers , 1980, Journal of the Neurological Sciences.
[16] F. Gibberd,et al. HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE) TREATED BY DIET AND PLASMA-EXCHANGE , 1979, The Lancet.
[17] R. Griggs,et al. Note on plasma exchange therapy in Refsum's disease. , 1978, Advances in neurology.
[18] A. Capute,et al. Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease , 1975, Clinical genetics.
[19] D. Danks,et al. Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism. , 1975, The Journal of pediatrics.
[20] Richards Bw. Sjogren-Larsson syndrome. , 1970, Lancet.
[21] M. Haust,et al. Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study. , 1968, Canadian Medical Association journal.
[22] J. Avigan,et al. Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis. , 1965, Biochemical and biophysical research communications.
[23] W. Hass,et al. REFSUM'S SYNDROME: REPORT OF A CASE INCLUDING ELECTRON MICROSCOPIC STUDIES OF THE LIVER. , 1965, Archives of neurology.