About: Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course

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About: Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course Goto Sponge NotDistinct Permalink

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scientific article published on 01 July 1990

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 1990 (uk) im Juli 1990 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunetu de 1990 (ast) scientific article published on 01 July 1990 (en)
publication date	wds:Q68551112-F3C02A2A-98D3-4508-A7B3-9A49A682F312
publication date	1990-07-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q68551112-14BBAF86-667E-40E7-BDE3-62F4B45823CA
exact match	https://scigraph.springernature.com/pub.10.1007/bf01959531
cites work	wds:Q68551112-0698FCEF-3724-4D84-AA71-A1C5DE4910F9 wds:Q68551112-073144F2-AD79-4B24-80C1-7F516F780FF6 wds:Q68551112-0FFA099B-38D8-4250-BE67-8C3DBC7D44EC wds:Q68551112-16EF83C5-CF9F-4914-B6E4-711B0B00D605 wds:Q68551112-1D7247A4-6B00-4D77-AA8A-36211DADEB4E wds:Q68551112-265131E3-5E30-44F1-B82F-A771DD664B73 wds:Q68551112-26AFCF21-C155-4401-AB1D-C3F9D5C5BD9B wds:Q68551112-2ED8E275-E2EB-4522-9B34-EBDAE03C4DE2 wds:Q68551112-32210132-0B72-4379-B16A-2DDDE426CA1E wds:Q68551112-3B318A48-F9EE-4781-BF70-98FEBA06B437 wds:Q68551112-444DFEF5-EA02-4F91-8854-DDB890892F15 wds:Q68551112-487AE55B-41E4-4860-895A-615738EB9133 wds:Q68551112-4EB1D08A-A128-435C-85D2-53CAB985B243 wds:Q68551112-4F562BA6-6E53-4322-BCF3-64BAA8CAFC41 wds:Q68551112-5ECBB195-55D7-4972-AA20-EC389CA60722 wds:Q68551112-64D57156-3603-4BFC-A627-754D5114D0A4 wds:Q68551112-650712E5-62AD-4EA9-8807-9354564893E8 wds:Q68551112-6AB4BA66-2D78-4672-AB4C-F7273A36BEE7 wds:Q68551112-6F858F16-B5AF-4C29-8749-DB6B39D8F6C6 wds:Q68551112-71EA1BB5-DAF0-41A5-A6D2-1BDC928EF94B wds:Q68551112-7571E1A5-0DE8-471E-AC28-E348C2EE0B82 wds:Q68551112-79A2AB5B-CAF9-4B27-84B5-A32F5C447F11 wds:Q68551112-805892F5-7127-4A45-A535-DB953DDBE352 wds:Q68551112-80EB79FC-43F1-45A8-A736-4C2AA5F2EB40 wds:Q68551112-8C07E519-6FBB-4DD9-A4A2-61E947F9963E wds:Q68551112-9220CDCD-6F52-40BB-85DE-488AC5AC2FA1 wds:Q68551112-94E158A3-A910-4587-801D-47F655B09F1E wds:Q68551112-970E487B-41A0-46D0-94D9-170F426EEDFF wds:Q68551112-994BFAB6-3178-4B46-BCA5-C5ABFB16F1AB wds:Q68551112-9C2B7850-B136-458B-B3D2-C5E7C7C7B611 wds:Q68551112-AF1D988C-E659-4980-B37F-328555E923BE wds:Q68551112-B967755D-0188-4C30-83B1-EE7ACCBF026E wds:Q68551112-C53D1646-45C3-43FF-9DA7-1AE45DD54C73 wds:Q68551112-DAC0613B-3F4F-4E74-B51C-52E2776C8389 wds:Q68551112-EE24860D-4E6D-41A6-978C-0417B421BEFB wds:Q68551112-F821A7AE-BD81-46C2-BF33-1113FD2F9332
cites work	A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy) X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA esters Cerebro-hepato-renal syndrome. Report of a case with histochemical and ultrastructural observations Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy C27 Bile Acids in Infants with Coprostanic Acidemia and Occurrence of a 3alpha,7alpha,12alpha-Trihydroxy-5beta-C29 Dicarboxylic Bile Acid as a Major Component in Their Serum Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome. Peroxisomal disorders in neurology Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency Peroxisomal bifunctional enzyme deficiency Neonatal adrenoleukodystrophy Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts Lignoceroyl-CoASH ligase: enzyme defect in fatty acid beta-oxidation system in X-linked childhood adrenoleukodystrophy Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron microscopical, immunohistochemical and biochemical findings New form of adrenoleukodystrophy New phenotypic variant of adrenoleukodystrophy. Pathologic, ultrastructural, and biochemical study in two brothers Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis Peroxisomal disorders: clinical commentary and future prospects The inborn errors of peroxisomal beta-oxidation: a review NORMAL CONDUCTION VELOCITY OF ULNAR, MEDIAN AND PERONEAL NERVES IN INFANCY, CHILDHOOD AND ADOLESCENCE Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology Neonatal-onset adrenoleukodystrophy in a girl Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepato-renal syndrome of zellweger Neuropathological considerations in cerebro-hepato-renal syndrome (Zellweger's syndrome) A Golgi study of the brain malformation in Zellweger's cerebro-hepato-renal disease The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of pneumocystis carinii pneumonitis in two siblings Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies Glycogen accumulation in the central nervous system in the cerebro-hepato-renal syndrome. Report of a case with ultrastructural studies Inherited peroxisomal disorders involving the nervous system
author name string	wds:Q68551112-5A15EF1A-12FD-4305-9F98-96E1A26CEE17 wds:Q68551112-68085EAC-6190-40AF-885B-40ADC9B262C5 wds:Q68551112-8793D683-97D4-4BEA-94B8-76834A9A4C23 wds:Q68551112-A06879DF-25F9-46F6-AE77-F00464116BB7 wds:Q68551112-F3EB0656-8A5C-4549-9021-CAD7E7E5E982
author name string	R J Wanders R B Schutgens P G Barth E M Bleeker-Wagemakers D van Heemstra
rdfs:label	Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course (en) Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course (nl)
skos:prefLabel	Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course (en) Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course (nl)
name	Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course (en) Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course (nl)
title	wds:Q68551112-EDB03759-2D42-4E5E-9ED9-D433FC9CAE39
title	Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course (en)

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