A milder variant of Zellweger syndrome.

scientific article published in November 1985

A milder variant of Zellweger syndrome. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/BF00441774
P698PubMed publication ID4076250

P50authorKoert Patrick DingemansQ106570165
P2093author name stringH S Heymans
R B Schutgens
P G Barth
J A Bakkeren
J M van der Klei-van Moorsel
A C Douwes
P2860cites workCerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolismQ28337179
Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological diseaseQ28340869
Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndromeQ33642006
Formation of cholic acid from 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid by rat liver peroxisomesQ34265888
Conversion of 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid into cholic acid by rat liver peroxisomesQ34288021
A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drugQ34585642
Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and femalesQ35885011
Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case studyQ35934763
Peroxisomal oxidation of long chain fatty acidsQ39243020
Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron microscopical, immunohistochemical and biochemical findingsQ40163377
Defects of Bile Acid Synthesis in Zellweger's SyndromeQ41466334
Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndromeQ41642567
Fatty acid oxidation by human liver peroxisomesQ41723750
Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblingsQ42270073
New form of adrenoleukodystrophyQ44617159
Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndromeQ44784513
The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblastsQ44971908
Disturbed adrenocortical function in cerebro-hepato-renal syndrome of ZellwegerQ45052384
Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathwayQ46184824
Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liverQ47613974
Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndromeQ47974070
Prenatal detection of Zellweger syndromeQ48590933
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosisQ48670157
Serum very long chain fatty acid pattern in Zellweger syndromeQ48681722
Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndromeQ48682710
Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndromeQ48686003
Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome).Q48715988
Pathologic alterations in the brain and liver in hyperpipecolic acidemia.Q48719006
Ultrastructure of the Liver in the Cerebrohepatorenal Syndrome of ZellwegerQ48750346
Cerebro-hepato-renal (Zellweger's) syndrome. Ocular involvementQ48770328
Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.Q48862242
Neonatal-onset adrenoleukodystrophy in a girlQ48880755
Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.Q51660725
Subcellular localization of acyl coenzyme A: dihydroxyacetone phosphate acyltransferase in rat liver peroxisomes (microbodies)Q66961458
Rat liver peroxisomes catalyze the beta oxidation of fatty acidsQ67276534
Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patientsQ70540627
Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotesQ70966765
New phenotypic variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothersQ71162018
Ocular manifestations of Conradi and Zellweger syndromesQ71559121
Peroxisomal beta-oxidation of long fatty acids: effects of high fat dietsQ72042317
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?Q72750133
P433issue4
P304page(s)338-342
P577publication date1985-11-01
P1433published inEuropean Journal of PediatricsQ15755736
P1476titleA milder variant of Zellweger syndrome.
P478volume144