| scholarly article | Q13442814 |
| P356 | DOI | 10.1007/BF00441598 |
| P698 | PubMed publication ID | 2445576 |
| P2093 | author name string | B T Poll-The | |
| R B Schutgens | |||
| J M Saudubray | |||
| F Roels | |||
| L Monnens | |||
| A Cornelis | |||
| M Odièvre | |||
| L C Govaerts | |||
| H A Ogier | |||
| J M Scotto | |||
| P2860 | cites work | Antenatal diagnosis of infantile Refsum's disease | Q68933842 |
| Absence of hepatic peroxisomes in a case of infantile Refsum's disease | Q68951173 | ||
| Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins | Q68976247 | ||
| Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases | Q68977717 | ||
| 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 | ||
| [Increased concentration of phytanic acid in plasma and liver of an infant with cerebral damage of unknown etiology (author's transl)] | Q70021686 | ||
| Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies | Q70043608 | ||
| Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome | Q70069331 | ||
| Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients | Q70540627 | ||
| New phenotypic variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothers | Q71162018 | ||
| Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome | Q72746726 | ||
| Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? | Q72750133 | ||
| Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease | Q72751371 | ||
| A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS | Q34257272 | ||
| Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females | Q35885011 | ||
| Cytochemistry of human catalase. The demonstration of hepatic and renal peroxisomes by a high temperature procedure | Q39578294 | ||
| Peroxisomal disorders: a newly recognised group of genetic diseases | Q39730039 | ||
| Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron microscopical, immunohistochemical and biochemical findings | Q40163377 | ||
| The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects | Q40167487 | ||
| Defects of Bile Acid Synthesis in Zellweger's Syndrome | Q41466334 | ||
| The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland | Q42263422 | ||
| Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings | Q42270073 | ||
| Impaired plasmalogen metabolism in infantile Refsum's disease | Q43439926 | ||
| Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease | Q44587840 | ||
| Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children | Q44971224 | ||
| Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger | Q45052384 | ||
| 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 | ||
| Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata | Q48365664 | ||
| 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 | ||
| The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma | Q48490594 | ||
| Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome | Q48521798 | ||
| Hyperpipecolic acidemia in neonatal adrenoleukodystrophy | Q48593495 | ||
| 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 | ||
| Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). | Q48715988 | ||
| 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 | ||
| Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. | Q50581799 | ||
| Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid. | Q51660725 | ||
| Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. | Q53894308 | ||
| P433 | issue | 5 | |
| P921 | main subject | Zellweger syndrome | Q189167 |
| infantile Refsum disease | Q55346072 | ||
| P304 | page(s) | 477-483 | |
| P577 | publication date | 1987-09-01 | |
| P1433 | published in | European Journal of Pediatrics | Q15755736 |
| P1476 | title | Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. | |
| P478 | volume | 146 |
| Q35245375 | A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy) |
| Q40816761 | A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder |
| Q44454808 | An apparent decrease in cholesterol biosynthesis in peroxisomal-defective Chinese hamster ovary cells is related to impaired mitochondrial oxidation |
| Q42859596 | Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder |
| Q35313752 | Autopsy findings in two siblings with infantile Refsum disease |
| Q72406532 | Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study |
| Q34744687 | Central role of peroxisomes in isoprenoid biosynthesis |
| Q71345327 | Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver |
| Q42282403 | Clinical and biochemical characteristics of peroxisomal disorders: an update |
| Q41366886 | Clinical approach to inherited peroxisomal disorders |
| Q77377020 | Generalized peroxisomal disorder in male twins: fatty acid composition of serum lipids and response to n-3 fatty acids |
| Q33682043 | Heterogeneous N-terminal acylation of retinal proteins |
| Q73262989 | Hyperpipecolic acidemia: clinical, biochemical, and radiologic observations |
| Q28270885 | Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism |
| Q67674820 | Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report |
| Q35604911 | Inherited peroxisomal disorders involving the nervous system |
| Q42426495 | Isoprenoid biosynthesis is not compromised in a Zellweger syndrome mouse model |
| Q24628708 | Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy |
| Q40465060 | Lipid studies in retinitis pigmentosa |
| Q36930280 | Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review |
| Q73117547 | Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells |
| Q48161820 | Medical-dental findings and management of a child with infantile Refsum disease: a case report |
| Q36730324 | Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts |
| Q34635876 | Normal cholesterol synthesis in human cells requires functional peroxisomes |
| Q28211700 | Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder |
| Q38347768 | Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder |
| Q67653760 | Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders |
| Q68563955 | Peroxisomal disorders |
| Q72823003 | Peroxisomal disorders: a review |
| Q33607754 | Peroxisomal disorders: clinical, biochemical, and molecular aspects |
| Q41308204 | Peroxisomal disorders: overview |
| Q34101191 | Peroxisomal protein targeting and identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes |
| Q55209610 | Peroxisome biogenesis disorders. |
| Q71700951 | Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups |
| Q44321290 | Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders |
| Q41652082 | Plasma lipoproteins and monocyte‐macrophages in a peroxisome‐deficient system: Study of a patient with infantile refsum disease |
| Q41366899 | Practical guide for morphometry of human peroxisomes on electron micrographs |
| Q41506888 | Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line |
| Q38270108 | The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview |
| Q37811025 | The inborn errors of peroxisomal beta-oxidation: a review |
| Q36652090 | The peroxisome and the eye |
| Q28183390 | The role of peroxisomes in cholesterol metabolism |
| Q26775566 | Zellweger spectrum disorders: clinical overview and management approach |
| Q44455222 | Zellweger syndrome in a preterm, small for gestational age infant |
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