Prenatal and perinatal diagnosis of peroxisomal disorders

scientific article published on January 1989

Prenatal and perinatal diagnosis of peroxisomal disorders is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P6179Dimensions Publication ID1039136198
P356DOI10.1007/BF01799291
P8608Fatcat IDrelease_cywagpdrzbb2dbx57nlvqlskfy
P698PubMed publication ID2509803

P2093author name stringSchutgens RB
Heymans HS
Wanders RJ
van den Bosch H
Tager JM
Schrakamp G
P2860cites workHuman peroxisomal 3-oxoacyl-coenzyme A thiolase deficiencyQ24293596
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type IQ24299643
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysisQ24561552
Oxidation of spermidine and spermine in rat liver: purification and properties of polyamine oxidaseQ34204640
Peroxisomes (microbodies and related particles)Q34231122
Peroxisomal bifunctional enzyme deficiencyQ34567743
A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drugQ34585642
Adrenoleukodystrophy: oleic acid lowers fibroblast saturated C22-26 fatty acidsQ34694715
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acidsQ34716419
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 adrenoleukodystrophyQ36265198
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum diseaseQ37395755
Peroxisomal disorders in neurologyQ39561207
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatmentQ39598541
Peroxisomal disorders: a newly recognised group of genetic diseasesQ39730039
The adrenoleukodystrophies.Q39764202
Peroxisomes (microbodies) in cell pathology.Q40205518
Unsuccessful attempts to induce peroxisomes in two cases of Zellweger disease by treatment with clofibrateQ41500401
Peroxisomal beta-oxidation of long-chain fatty acids possessing different extents of unsaturationQ41910088
Linkage of adrenoleukodystrophy to a polymorphic DNA probeQ42120367
Chain-shortening of a xenobiotic acyl compound by the peroxisomal beta-oxidation system in rat liverQ42223114
Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursorsQ43771786
Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndromeQ43827200
Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrateQ43907873
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disordersQ44321290
Biosynthesis of membrane polypeptides of rat liver peroxisomesQ45031150
Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorderQ46367988
Cholesterol synthesis in rat liver peroxisomes. Conversion of mevalonic acid to cholesterolQ46820964
Studies on microperoxisomes. V. Are microperoxisomes ubiquitous in mammalian cells?Q46826525
Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndromeQ47974070
Prenatal diagnosis of Zellweger's syndrome by chorionic villus sampling--and a caveatQ48346441
Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndromeQ48378884
Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activitiesQ48422324
The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogensQ48454560
Prenatal diagnosis of Zellweger cerebrohepatorenal syndromeQ48521798
Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndromeQ48621395
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosisQ48670157
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 punctataQ57386868
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 acidsQ68406529
Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndromeQ68446453
Beta-oxidation of the carboxyl side chain of prostaglandin E2 in rat liver peroxisomes and mitochondriaQ68520143
Very long chain fatty acid beta-oxidation by rat liver mitochondria and peroxisomesQ68530281
Chain-shortening of prostaglandin F2 alpha by rat liver peroxisomesQ68759475
Antenatal diagnosis of infantile Refsum's diseaseQ68933842
Clinical and biochemical heterogeneity in conditions with phytanic acid accumulationQ68983446
Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disordersQ69001835
Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cellsQ69163909
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 disordersQ69395828
In vitro studies on the oxidation of medium-chain dicarboxylic acids in rat liverQ69506993
A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cellsQ69568391
Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acidQ69749275
First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probeQ69834543
beta-Oxidation of polyunsaturated fatty acids by rat liver peroxisomes. A role for 2,4-dienoyl-coenzyme A reductase in peroxisomal beta-oxidationQ69890268
Oxidation of oxalate and polyamines by rat peroxisomesQ69943174
Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophiesQ70043608
The prenatal diagnosis of the cerebro-hepato-renal syndrome of ZellwegerQ70064763
Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine responsivenessQ70409433
Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblastsQ70597023
Heterogeneity of Chondrodysplasia punctataQ71760211
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?Q72750133
P304page(s)118-134
P577publication date1989-01-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titlePrenatal and perinatal diagnosis of peroxisomal disorders
P478volume12 Suppl 1

Reverse relations

cites work (P2860)
Q24307402A 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
Q44152628Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester
Q42282403Clinical and biochemical characteristics of peroxisomal disorders: an update
Q56241350Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey
Q34539570Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients
Q37827348Displacement bone marrow transplantation for some inborn errors
Q68363939First prenatal diagnosis of acyl-CoA oxidase deficiency
Q73989435Gas chromatographic-mass spectrometric determination of plasma saturated fatty acids using pentafluorophenyldimethylsilyl derivatization
Q72670881Histochemistry of peroxisomal enzyme activities: a tool in the diagnosis of Zellweger syndrome
Q33591444Inborn errors of bile acid biosynthesis and transport. Novel forms of metabolic liver disease
Q73117547Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells
Q73830075Mitochondrial, but not peroxisomal, beta-oxidation of fatty acids is conserved in coenzyme A-deficient rat liver
Q71902928Peroxisomal disorders
Q41308204Peroxisomal disorders: overview
Q35066559Prenatal diagnosis of enzyme defects--an update
Q52443293Primary hyperoxaluria: Therapeutic strategies for the 90's
Q43616006Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses
Q37811025The inborn errors of peroxisomal beta-oxidation: a review
Q67969615Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata
Q71708149Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies

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