scholarly article | Q13442814 |
P356 | DOI | 10.1007/BF00441774 |
P698 | PubMed publication ID | 4076250 |
P50 | author | Koert Patrick Dingemans | Q106570165 |
P2093 | author name string | H S Heymans | |
R B Schutgens | |||
P G Barth | |||
J A Bakkeren | |||
J M van der Klei-van Moorsel | |||
A C Douwes | |||
P2860 | cites work | Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism | Q28337179 |
Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease | Q28340869 | ||
Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome | Q33642006 | ||
Formation of cholic acid from 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid by rat liver peroxisomes | Q34265888 | ||
Conversion of 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholestanoic acid into cholic acid by rat liver peroxisomes | Q34288021 | ||
A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug | Q34585642 | ||
Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females | Q35885011 | ||
Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly: A case study | Q35934763 | ||
Peroxisomal oxidation of long chain fatty acids | Q39243020 | ||
Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron microscopical, immunohistochemical and biochemical findings | Q40163377 | ||
Defects of Bile Acid Synthesis in Zellweger's Syndrome | Q41466334 | ||
Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome | Q41642567 | ||
Fatty acid oxidation by human liver peroxisomes | Q41723750 | ||
Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings | Q42270073 | ||
New form of adrenoleukodystrophy | Q44617159 | ||
Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome | Q44784513 | ||
The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts | Q44971908 | ||
Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger | Q45052384 | ||
Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway | Q46184824 | ||
Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver | Q47613974 | ||
Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome | Q47974070 | ||
Prenatal detection of Zellweger syndrome | Q48590933 | ||
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis | Q48670157 | ||
Serum very long chain fatty acid pattern in Zellweger syndrome | Q48681722 | ||
Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome | Q48682710 | ||
Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome | Q48686003 | ||
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 Zellweger | Q48750346 | ||
Cerebro-hepato-renal (Zellweger's) syndrome. Ocular involvement | Q48770328 | ||
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 girl | Q48880755 | ||
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 acids | Q67276534 | ||
Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients | Q70540627 | ||
Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes | Q70966765 | ||
New phenotypic variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothers | Q71162018 | ||
Ocular manifestations of Conradi and Zellweger syndromes | Q71559121 | ||
Peroxisomal beta-oxidation of long fatty acids: effects of high fat diets | Q72042317 | ||
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? | Q72750133 | ||
P433 | issue | 4 | |
P304 | page(s) | 338-342 | |
P577 | publication date | 1985-11-01 | |
P1433 | published in | European Journal of Pediatrics | Q15755736 |
P1476 | title | A milder variant of Zellweger syndrome. | |
P478 | volume | 144 |