Phenotypic and genotypic variability of generalized peroxisomal disorders.
暂无分享,去创建一个
[1] H. Moser,et al. Neonatal seizures and retardation in a girl with biochemical features of X‐linked adrenoleukodystrophy , 1988, Neurology.
[2] A. Moser,et al. Biochemical abnormalities in rhizomelic chondrodysplasia punctata. , 1988, The Journal of pediatrics.
[3] R. Wanders,et al. X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters. , 1987, Clinica chimica acta; international journal of clinical chemistry.
[4] Henk,et al. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. , 1987, Proceedings of the National Academy of Sciences of the United States of America.
[5] H. Moser,et al. Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy. , 1987, Proceedings of the National Academy of Sciences of the United States of America.
[6] C. Danpure,et al. ENZYMOLOGICAL DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE 1 BY MEASUREMENT OF HEPATIC ALANINE: GLYOXYLATE AMINOTRANSFERASE ACTIVITY , 1987, The Lancet.
[7] E. Zackai,et al. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. , 1986, American journal of medical genetics.
[8] R. Wanders,et al. Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. , 1986, The New England journal of medicine.
[9] I. Singh,et al. Lignoceroyl‐CoASH ligase: enzyme defect in fatty acid β‐oxidation system in X‐linked childhood adrenoleukodystrophy , 1986, FEBS letters.
[10] H. Bernheimer,et al. The Cerebrohepatorenal (Zellweger) Syndrome: An Improved Method for the Biochemical Diagnosis and its Potential Value for Prenatal Detection , 1985, Pediatric Research.
[11] R. Wanders,et al. Primary hyperparathyroidism associated with pancytosis. , 1985 .
[12] M. Dintsman,et al. Primary hyperparathyroidism associated with pancytosis. , 1985, The New England journal of medicine.
[13] H. Moser,et al. Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses. , 1985, Human pathology.
[14] A. Moser,et al. Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders , 1985, The Journal of cell biology.
[15] R. Wanders,et al. Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome , 1985 .
[16] H. Moser,et al. Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies. , 1985, Science.
[17] H. Moser,et al. Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy , 1984, Annals of neurology.
[18] 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.
[19] H. Moser,et al. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. , 1984, Proceedings of the National Academy of Sciences of the United States of America.
[20] 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.
[21] K. Geisinger,et al. Pathologic Alterations in the Brain and Liver in Hyperpipecolic Acidemia , 1983, Journal of neuropathology and experimental neurology.
[22] T. Hashimoto. INDIVIDUAL PEROXISOMAL βT‐OXIDATION ENZYMES * , 1982 .
[23] E. Holtzman. PEROXISOMES IN NERVOUS TISSUE * , 1982 .
[24] B. Burton,et al. Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings. , 1981, The Journal of pediatrics.
[25] Sherrod Ps,et al. Warfarin embryopathy in siblings. , 1981 .
[26] J. I. Pedersen,et al. Conversion of 3α,7α,12α‐trihydroxy‐5β‐cholestanoic acid into cholic acid by rat liver peroxisomes , 1980 .
[27] A. Hajra,et al. Subcellular localization of acyl coenzyme A: dihydroxyacetone phosphate acyltransferase in rat liver peroxisomes (microbodies). , 1979, The Journal of biological chemistry.
[28] R. Calvert,et al. Proteolytic digestion patterns of spectrin subunits , 1978, FEBS letters.
[29] W. Engel,et al. Adrenomyeloneuropathy , 1977, Neurology.
[30] C. Duve,et al. A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug. , 1976, Proceedings of the National Academy of Sciences of the United States of America.
[31] Y. Kishimoto,et al. Fatty acid abnormality in adrenoleukodystrophy. , 1976 .
[32] A. Capute,et al. Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease , 1975, Clinical genetics.
[33] J. Hall,et al. Chondrodysplasia punctata and maternal warfarin use during pregnancy. , 1975, American journal of diseases of children.
[34] J. Powers,et al. Adreno-leukodystrophy. Similar ultrastructural changes in adrenal cortical and Schwann cells. , 1974, Archives of neurology.
[35] I. Rapin,et al. Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome , 1973, Science.
[36] M. Haust,et al. Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study. , 1968, Canadian Medical Association journal.
[37] E. Bodian. Skin manifestations of Conradi's disease. Chondrodystrophia congenita punctata. , 1966, Archives of dermatology.
[38] P. Bowen,et al. A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS. , 1964, Bulletin of the Johns Hopkins Hospital.
[39] Charles R.scriver,et al. The Metabolic basis of inherited disease , 1989 .
[40] J. I. Pedersen,et al. Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. , 1986, The Journal of pediatrics.
[41] F Roels,et al. Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. , 1986, The Journal of pediatrics.
[42] A. Poulos,et al. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. , 1986, The Journal of pediatrics.
[43] S. Goldfischer,et al. Peroxisomes (microbodies) in cell pathology. , 1984, International review of experimental pathology.
[44] N. Tolbert,et al. Metabolic pathways in peroxisomes and glyoxysomes. , 1981, Annual review of biochemistry.
[45] C. Duve,et al. Intracellular localization of catalase and of some oxidases in rat liver. , 1960, Biochimica et biophysica acta.