Phenotypic and genotypic variability of generalized peroxisomal disorders.

[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.