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Page 1
First Japanese case of Zellweger syndrome with a mutation in PEX14.
Komatsuzaki S, Ogawa E, Shimozawa N, Sakamoto O, Haginoya K, Uematsu M, Hasegawa Y, Matsubara Y, Ohura T. Komatsuzaki S, et al. Pediatr Int. 2015 Dec;57(6):1189-92. doi: 10.1111/ped.12713. Epub 2015 Dec 2. Pediatr Int. 2015. PMID: 26627464
Zellweger syndrome, one of the peroxisome biogenesis disorders, is an autosomal recessive disease caused by mutations in PEX genes. ...An increased excretion of 3,6-epoxydicarboxylic acids leads to the diagnosis of Zellweger syndrome and a mutat …
Zellweger syndrome, one of the peroxisome biogenesis disorders, is an autosomal recessive disease caused by mutations i …
Clinical approach to inherited peroxisomal disorders.
Poggi-Travert F, Fournier B, Poll-The BT, Saudubray JM. Poggi-Travert F, et al. J Inherit Metab Dis. 1995;18 Suppl 1:1-18. doi: 10.1007/BF00711425. J Inherit Metab Dis. 1995. PMID: 9053544 Review.
The prototype of peroxisomal disorders is represented by 'classical' Zellweger syndrome (ZS) which is the most severe disorder combining all the characteristic symptoms. ZS is characterized by the association of errors of morphogenesis, severe neurological dy …
The prototype of peroxisomal disorders is represented by 'classical' Zellweger syndrome (ZS) which is the most severe d …
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.
Kanzawa N, Shimozawa N, Wanders RJ, Ikeda K, Murakami Y, Waterham HR, Mukai S, Fujita M, Maeda Y, Taguchi R, Fujiki Y, Kinoshita T. Kanzawa N, et al. J Lipid Res. 2012 Apr;53(4):653-63. doi: 10.1194/jlr.M021204. Epub 2012 Jan 17. J Lipid Res. 2012. PMID: 22253471 Free PMC article.
A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical ph …
A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defe …
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.
Moser AE, Singh I, Brown FR 3rd, Solish GI, Kelley RI, Benke PJ, Moser HW. Moser AE, et al. N Engl J Med. 1984 May 3;310(18):1141-6. doi: 10.1056/NEJM198405033101802. N Engl J Med. 1984. PMID: 6709009
The cerebrohepatorenal (Zellweger) syndrome is a fatal autosomal recessive disorder manifested in the neonatal period by profound hypotonia, psychomotor retardation, dysmorphic features, and an enlarged liver. ...This observation extends the evidence that the …
The cerebrohepatorenal (Zellweger) syndrome is a fatal autosomal recessive disorder manifested in the neonatal period by profo …
Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome.
Ek J, Kase BF, Reith A, Björkhem I, Pedersen JI. Ek J, et al. J Pediatr. 1986 Jan;108(1):19-24. doi: 10.1016/s0022-3476(86)80763-6. J Pediatr. 1986. PMID: 3944694
A boy with psychomotor retardation and Leber congenital amaurosis, sensory hearing loss, and hepatomegaly is reported. Accumulation of bile acid precursors and very long chain fatty acids together with impaired biosynthesis of plasmalogens in cultured fibroblasts (similar …
A boy with psychomotor retardation and Leber congenital amaurosis, sensory hearing loss, and hepatomegaly is reported. Accumulation o …
Peroxisomal disorders. Neurodevelopmental and biochemical aspects.
Brown FR 3rd, Voigt R, Singh AK, Singh I. Brown FR 3rd, et al. Am J Dis Child. 1993 Jun;147(6):617-26. doi: 10.1001/archpedi.1993.02160300023015. Am J Dis Child. 1993. PMID: 7685145 Review.
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. Because peroxisomes are involved in the metabolism of lipids critical t …
The peroxisomal disorders represent a group of inherited metabolic disorders that derive from defects of peroxisomal biogenesi …
Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study.
Farrell DF. Farrell DF. Pediatr Neurol. 2012 Nov;47(5):330-6. doi: 10.1016/j.pediatrneurol.2012.07.006. Pediatr Neurol. 2012. PMID: 23044013 Review.
Neonatal adrenoleukodystrophy constitutes a distinct genetic disorder of autosomal recessive inheritance, and is distinguishable from the cerebro-hepato-renal syndrome of Zellweger and X-linked juvenile adrenoleukodystrophy, although all three conditions store very …
Neonatal adrenoleukodystrophy constitutes a distinct genetic disorder of autosomal recessive inheritance, and is distinguishable from the ce …
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N. Suzuki Y, et al. J Inherit Metab Dis. 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. J Inherit Metab Dis. 2001. PMID: 11405337 Review.
Zellweger syndrome, the most severe phenotype, is characterized by hypotonia, psychomotor retardation and neuronal migration disorder. ...Investigations using knockout mice are expected to facilitate understanding of migration disorders....
Zellweger syndrome, the most severe phenotype, is characterized by hypotonia, psychomotor retardation and neuronal migr …
Peroxisomal disorders: clinical aspects.
Suzuki Y, Shimozawa N, Takahashi Y, Imamura A, Kondo N, Orii T. Suzuki Y, et al. Ann N Y Acad Sci. 1996 Dec 27;804:442-9. doi: 10.1111/j.1749-6632.1996.tb18635.x. Ann N Y Acad Sci. 1996. PMID: 8993563
Peroxisomal disorders are divided into two groups from a clinical point of view. Diseases in the first group, peroxisome-deficient disorders (PDD), Zellweger-like syndrome, and isolated deficiencies of peroxisomal beta-oxidation enzymes, are characteri …
Peroxisomal disorders are divided into two groups from a clinical point of view. Diseases in the first group, peroxisome-deficient …
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
Cho SY, Chang YP, Park JY, Park HD, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Jin DK. Cho SY, et al. Ann Clin Lab Sci. 2011 Spring;41(2):182-7. Ann Clin Lab Sci. 2011. PMID: 21844578
Peroxisome biogenesis disorders (PBD) represent a spectrum of genetic disorders characterized by impaired peroxisome assembly. Zellweger syndrome (ZS) is the most severe form of PBD and is characterized by craniofacial abnormalities, severe hypotonia, …
Peroxisome biogenesis disorders (PBD) represent a spectrum of genetic disorders characterized by impaired peroxisome assembly. …
23 results