|1.||Zellweger Syndrome (Zellweger's Syndrome)
|2.||Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
|4.||Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
|5.||Infantile Refsum Disease (Infantile Phytanic Acid Storage Disease)
|1.||Wanders, Ronald J A: 13 articles (12/2012 - 02/2003)|
|2.||Wajner, Moacir: 7 articles (06/2013 - 09/2006)|
|3.||Shimozawa, N: 6 articles (07/2001 - 01/2000)|
|4.||Berger, Johannes: 5 articles (01/2015 - 06/2012)|
|5.||Busanello, Estela Natacha Brandt: 5 articles (06/2013 - 09/2010)|
|6.||Tonin, Anelise Miotti: 5 articles (06/2013 - 09/2010)|
|7.||Ferdinandusse, Sacha: 5 articles (12/2012 - 08/2003)|
|8.||Waterham, Hans R: 5 articles (04/2012 - 02/2003)|
|9.||Shimozawa, Nobuyuki: 5 articles (04/2012 - 10/2003)|
|10.||Wanders, R J A: 5 articles (04/2008 - 01/2003)|
|1.||Fatty Acids (Saturated Fatty Acids)IBA
09/29/1989 - "Improved determination of very-long-chain fatty acids in plasma and cultured skin fibroblasts: applications to the diagnosis of peroxisomal disorders."
12/20/2002 - "Clinical observations in patients with peroxisomal disorders and studies employing corresponding mouse models have shown that supraphysiological concentrations of dietary branched chain fatty acids (BCFAs) are associated with a high level of toxicity, which is poorly understood at present. "
01/01/1991 - "Diagnostic and pathogenetic investigations of peroxisomal disorders should include the study of the macroscopic and microscopic pathology of the liver, in addition to careful clinical observations, skeletal X-ray and brain CT scan, assays of very long-chain fatty acids and bile acid intermediates, and selected enzyme activities. "
08/15/2010 - "Peroxisomal disorders are characterized biochemically by elevated levels of very long chain fatty acids (VLCFAs) in serum. "
01/01/2009 - "Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland."
05/01/1999 - "Collectively, these results visualize the peroxisomal localization of alkyl-DHAP synthase, indicate that the enzyme is unstable outside its target organelle and explain that normal enzyme protein levels found in some peroxisomal disorders result from protection against cytoplasmic degradation through import into peroxisomes. "
12/01/1999 - "To determine the turnover of alkyl-DHAP synthase in several peroxisomal disorders, pulse-chase experiments were performed. "
05/01/1999 - "Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders."
07/15/1997 - "Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders."
06/01/2007 - "Rhizomelic chondrodysplasia punctata type 3 is a severe peroxisomal disorder caused by inborn deficiency of alkyldihydroxyacetonephosphate synthase (ADPS). "
10/24/1997 - "Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts."
10/15/1990 - "Complementation studies, using fused cell lines from patients with peroxisomal disorders, have shown correction of defective plasmalogen synthesis and phytanic acid oxidation as well as an increase in the number of peroxisomes. "
11/01/2007 - "Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review."
10/01/1998 - "The alpha-oxidation of phytanic acid and the beta-oxidation of pristanitc acid were investigated in cultured fibroblasts from controls and patients affected with different peroxisomal disorders using deuterated substrates. "
05/01/1996 - "Up till now, errors of phytanic acid metabolism in children with peroxisomal disorders have been estimated by measuring 14CO2 formation from 1-14C-labelled phytanic acid in different systems. "
04/22/1998 - "Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblasts."
03/25/2011 - "Pristanic acid (Prist) is accumulated in various peroxisomal disorders characterized by severe neurological dysfunction whose pathogenesis is poorly understood. "
03/25/2011 - "Pristanic acid promotes oxidative stress in brain cortex of young rats: a possible pathophysiological mechanism for brain damage in peroxisomal disorders."
01/01/2009 - "This case adds to the phenotypic variation seen in this peroxisomal disorder and highlights the importance of screening for plasma pristanic acid levels in patients with unexplained relapsing encephalopathies."
04/01/2008 - "This case adds to the phenotypic variation seen in this peroxisomal disorder and highlights the importance of screening for plasma pristanic acid levels in patients with unexplained relapsing encephalopathies."
01/01/2005 - "The aim of this study was to examine the in vitro effect of peroxisomal dysfunction on lysosomal enzymes, the autophagic machinery in the cell, in order to understand the mechanisms of pathogenesis of peroxisomal disorders. "
08/01/2006 - "A deficiency of its breakdown, leading to elevated levels, can result from either a general peroxisomal dysfunction or from a defect in one of the enzymes involved in alpha-oxidation. "
08/01/1997 - "Peroxisomal disorders arise either from defects in the biogenesis of peroxisomes or from the defective synthesis of one or more peroxisomal enzymes. "
08/01/1997 - "The peroxisomal disorders represent a group of inherited metabolic disorders that derive from defects of peroxisomal biogenesis and/or from dysfunction of single or multiple peroxisomal enzymes. "
06/01/1997 - "Peroxisomal disorders include single enzyme defects and defects of peroxisomal fatty acid oxidation enzymes. "
01/01/2001 - "Biochemical studies revealed elevation of blood pipecolic acid and VLCFAs, compatible with peroxisomal disorder. "
02/01/2010 - "Determination of pipecolic acid following trimethylsilyl and trifluoroacyl derivatisation on plasma filter paper by stable isotope GC-MS for peroxisomal disorders."
07/01/2004 - "For all patients, pipecolic acid proved to be a useful parameter in the biochemical classification of peroxisomal disorders."
07/01/2004 - "In six patients the suggestion of a peroxisomal disorder was raised by the fortuitous finding of a pipecolic acid peak in amino acid chromatography, routinely performed as a general metabolic screening. "
07/01/2004 - "Pipecolic acid was increased in all generalized peroxisomal disorders, while normal pipecolic acid with abnormal very long chain fatty acid concentrations was strong evidence for a single peroxisomal enzyme deficiency. "
03/01/1989 - "In addition, electron microscopy and catalase subcellular distribution studies revealed that, in contrast to neonatal adrenoleukodystrophy, peroxisomes were present in the patient's tissues. "
01/01/1988 - "Peroxisomes were visualized by cytochemical staining for catalase or/and electron microscopy in liver biopsies of two boys with childhood adrenoleukodystrophy (ALD), and of two girls with autopsy confirmed neonatal adrenoleukodystrophy (NALD). "
09/01/1993 - "Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum's disease are genetic disorders characterized by the virtual absence of catalase-positive peroxisomes and a general impairment of peroxisomal functions. "
11/01/1992 - "Generalized peroxisome-deficient disorders including cerebro-hepato-renal Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease are autosomal recessive diseases, where catalase-containing particles (peroxisomes) are morphologically absent. "
03/17/1998 - "We have studied human skin fibroblast cell lines that have multiple peroxisomal dysfunctions with normal packaging of PTS1 and PTS2 signal-containing proteins but lack catalase in peroxisomes. "
|8.||Immune Sera (Antisera)IBA
05/01/1995 - "Immunohistochemical studies using antisera against bifunctional protein, a beta-oxidation enzyme, were performed on liver, kidney, and brain tissue specimens from patients with peroxisomal disorders and from controls to investigate the distribution and development of peroxisomes. "
04/01/1993 - "Immunohistochemical studies with antisera against four peroxisomal enzymes, catalase and beta-oxidation enzymes (acyl-coenzyme A oxidase, bifunctional protein, and 3-ketoacyl-CoA thiolase), were performed on brain, liver, and kidney specimens from patients with peroxisomal disorders, as well as specimens from three control subjects, by using conventional paraffin-embedded autopsy material. "
01/01/1995 - "This knowledge can be used to reveal the existence of peroxisomal disorders in which only one acyl-CoA oxidase is deficient."
01/01/1991 - "Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data."
02/01/1997 - "Retrospective review of the medical records and EEGs of 14 patients with peroxisomal diseases: seven with Zellweger syndrome (ZS), two with neonatal adrenoleukodystrophy (NALD), two with acyl-CoA oxidase deficiency (AOXD), two with bifunctional enzyme deficiency (BFED), and one with rhizomelic chondrodysplasia punctata (RCDP). "
03/01/1988 - "A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)."
01/01/1989 - "Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disorders of peroxisome biogenesis with a generalized loss of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidaemia); (2) disorders with a loss of multiple peroxisomal functions (rhizomelic chondrodysplasia punctata and Zellweger-like syndrome; (3) disorders with loss of a single peroxisomal function (X-linked adrenoleukodystrophy, peroxisomal thiolase deficiency, bifunctional protein deficiency, acyl-CoA oxidase deficiency, classic Refsum disease, hyperoxaluria type I and acatalasaemia). "
06/01/1993 - "Because peroxisomes are involved in the metabolism of lipids critical to the functioning of the nervous system, many of the peroxisomal disorders manifest with significant degrees of progressive psychomotor dysfunction. "
08/01/1993 - "Patients with the autosomal recessive form of rhizomelic chondrodysplasia punctata (AR-RCDP) and other generalized peroxisomal disorders are deficient in the incorporation of fatty alcohol into plasmalogen lipids. "
08/01/1998 - "Generalized peroxisomal disorder in male twins: fatty acid composition of serum lipids and response to n-3 fatty acids."
08/06/1999 - "Our data demonstrate the capacity of LECs to synthesize PMs and the high coincidence between deficiency of PM and early manifestation of cataract in patients with peroxisomal disorders suggests that ether-bonded lipids may play an important role in maintaining lens transparency."
09/01/1997 - "Furthermore, we pay attention to syndromes whose description and study are of current importance: cardiofaciocutaneous syndrome, neutral lipids storage disease with ichthyosis, multiple sulphatase deficiency disease and peroxisomal disorders. "
|3.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
|4.||Drug Therapy (Chemotherapy)