review article | Q7318358 |
scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1039136198 |
P356 | DOI | 10.1007/BF01799291 |
P8608 | Fatcat ID | release_cywagpdrzbb2dbx57nlvqlskfy |
P698 | PubMed publication ID | 2509803 |
P2093 | author name string | Schutgens RB | |
Heymans HS | |||
Wanders RJ | |||
van den Bosch H | |||
Tager JM | |||
Schrakamp G | |||
P2860 | cites work | Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency | Q24293596 |
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I | Q24299643 | ||
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis | Q24561552 | ||
Oxidation of spermidine and spermine in rat liver: purification and properties of polyamine oxidase | Q34204640 | ||
Peroxisomes (microbodies and related particles) | Q34231122 | ||
Peroxisomal bifunctional enzyme deficiency | Q34567743 | ||
A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug | Q34585642 | ||
Adrenoleukodystrophy: oleic acid lowers fibroblast saturated C22-26 fatty acids | Q34694715 | ||
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids | Q34716419 | ||
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy) | Q35245375 | ||
Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy | Q36265198 | ||
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease | Q37395755 | ||
Peroxisomal disorders in neurology | Q39561207 | ||
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment | Q39598541 | ||
Peroxisomal disorders: a newly recognised group of genetic diseases | Q39730039 | ||
The adrenoleukodystrophies. | Q39764202 | ||
Peroxisomes (microbodies) in cell pathology. | Q40205518 | ||
Unsuccessful attempts to induce peroxisomes in two cases of Zellweger disease by treatment with clofibrate | Q41500401 | ||
Peroxisomal beta-oxidation of long-chain fatty acids possessing different extents of unsaturation | Q41910088 | ||
Linkage of adrenoleukodystrophy to a polymorphic DNA probe | Q42120367 | ||
Chain-shortening of a xenobiotic acyl compound by the peroxisomal beta-oxidation system in rat liver | Q42223114 | ||
Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors | Q43771786 | ||
Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome | Q43827200 | ||
Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrate | Q43907873 | ||
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders | Q44321290 | ||
Biosynthesis of membrane polypeptides of rat liver peroxisomes | Q45031150 | ||
Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder | Q46367988 | ||
Cholesterol synthesis in rat liver peroxisomes. Conversion of mevalonic acid to cholesterol | Q46820964 | ||
Studies on microperoxisomes. V. Are microperoxisomes ubiquitous in mammalian cells? | Q46826525 | ||
Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome | Q47974070 | ||
Prenatal diagnosis of Zellweger's syndrome by chorionic villus sampling--and a caveat | Q48346441 | ||
Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome | Q48378884 | ||
Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities | Q48422324 | ||
The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens | Q48454560 | ||
Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome | Q48521798 | ||
Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome | Q48621395 | ||
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis | Q48670157 | ||
A milder variant of Zellweger syndrome. | Q52081480 | ||
Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. | Q52261646 | ||
Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method. | Q53884235 | ||
A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients. | Q55057590 | ||
Biochemical abnormalities in rhizomelic chondrodysplasia punctata | Q57386868 | ||
Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids | Q68406529 | ||
Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome | Q68446453 | ||
Beta-oxidation of the carboxyl side chain of prostaglandin E2 in rat liver peroxisomes and mitochondria | Q68520143 | ||
Very long chain fatty acid beta-oxidation by rat liver mitochondria and peroxisomes | Q68530281 | ||
Chain-shortening of prostaglandin F2 alpha by rat liver peroxisomes | Q68759475 | ||
Antenatal diagnosis of infantile Refsum's disease | Q68933842 | ||
Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation | Q68983446 | ||
Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders | Q69001835 | ||
Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cells | Q69163909 | ||
Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders | Q69395828 | ||
In vitro studies on the oxidation of medium-chain dicarboxylic acids in rat liver | Q69506993 | ||
A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells | Q69568391 | ||
Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid | Q69749275 | ||
First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe | Q69834543 | ||
beta-Oxidation of polyunsaturated fatty acids by rat liver peroxisomes. A role for 2,4-dienoyl-coenzyme A reductase in peroxisomal beta-oxidation | Q69890268 | ||
Oxidation of oxalate and polyamines by rat peroxisomes | Q69943174 | ||
Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies | Q70043608 | ||
The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger | Q70064763 | ||
Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine responsiveness | Q70409433 | ||
Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts | Q70597023 | ||
Heterogeneity of Chondrodysplasia punctata | Q71760211 | ||
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? | Q72750133 | ||
P304 | page(s) | 118-134 | |
P577 | publication date | 1989-01-01 | |
P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
P1476 | title | Prenatal and perinatal diagnosis of peroxisomal disorders | |
P478 | volume | 12 Suppl 1 |
Q24307402 | A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C |
Q44152628 | Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester |
Q42282403 | Clinical and biochemical characteristics of peroxisomal disorders: an update |
Q56241350 | Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey |
Q34539570 | Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients |
Q37827348 | Displacement bone marrow transplantation for some inborn errors |
Q68363939 | First prenatal diagnosis of acyl-CoA oxidase deficiency |
Q73989435 | Gas chromatographic-mass spectrometric determination of plasma saturated fatty acids using pentafluorophenyldimethylsilyl derivatization |
Q72670881 | Histochemistry of peroxisomal enzyme activities: a tool in the diagnosis of Zellweger syndrome |
Q33591444 | Inborn errors of bile acid biosynthesis and transport. Novel forms of metabolic liver disease |
Q73117547 | Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells |
Q73830075 | Mitochondrial, but not peroxisomal, beta-oxidation of fatty acids is conserved in coenzyme A-deficient rat liver |
Q71902928 | Peroxisomal disorders |
Q41308204 | Peroxisomal disorders: overview |
Q35066559 | Prenatal diagnosis of enzyme defects--an update |
Q52443293 | Primary hyperoxaluria: Therapeutic strategies for the 90's |
Q43616006 | Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses |
Q37811025 | The inborn errors of peroxisomal beta-oxidation: a review |
Q67969615 | Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata |
Q71708149 | Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies |
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