| 1 | Characterization of two common 5' polymorphisms in PE X1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. (21846392) | Thoms S.... GAortner J. | 2011 | PEX1 |
| 2 | A mutation in PEX19 causes a severe clinical phenotyp e in a patient with peroxisomal biogenesis disorder. (20683989) | Mohamed S.... Waterham H.R. | 2010 | PEX19 |
| 3 | Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (19105186) | Yik W.Y.... Hacia J.G. | 2009 | PEX1, PEX10, PEX6 |
| 4 | Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders. (18793625) | Duranti G.... Dionisi-Vici C. | 2008 | HSD17B4 |
| 5 | A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. (17534573) | Zeharia A.... Korman S.H. | 2007 | PHEX, PEX12 |
| 6 | Mutations in the Peroxin Pex26p Responsible for Peroxisome Biogenesis Disorders of Complementation Group 8 Impair Its Stability, Peroxisomal Localization, and Interaction with the Pex1p.Pex6p Complex. (16257970) | Furuiki S.... Fujiki Y. | 2006 | PEX1, PEX6, PEX26 |
| 7 | Peroxisome biogenesis disorders. (17055079) | Steinberg S.J.... Moser H.W. | 2006 | PEX7 |
| 8 | Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder. (16006427) | Hashimoto K.... Kondo N. | 2005 | PEX13 |
| 9 | PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. (16086329) | Crane D.I.... Paton B.C. | 2005 | PEX1 |
| 10 | Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. (14630978) | Gootjes J.... Wanders R.J. | 2004 | PEX2 |
| 11 | Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. (14571262) | Gootjes J.... Wanders R.J. | 2004 | GNPAT, PEX12 |
| 12 | Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. (14872027) | Barth P.G.... Poll-The B.T. | 2004 | PEX1 |
| 13 | The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. (15542397) | Steinberg S.... Braverman N. | 2004 | PEX1, PEX10, PEX6 |
| 14 | Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. (15146459) | Shimozawa N.... Kondo N. | 2004 | PEX14, PEX7 |
| 15 | Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. (15184617) | Gootjes J.... Ferdinandusse S. | 2004 | CAT, PEX12 |
| 16 | Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. (15098231) | Poll-The B.T.... Barth P.G. | 2004 | PEX1 |
| 17 | Modeling human peroxisome biogenesis disorders in the nematode Caenorhabditis elegans. (12665560) | Thieringer H.... Driscoll M. | 2003 | PEX13 |
| 18 | Mutations in novel peroxin gene PEX26 that cause peroxisome- biogenesis disorders of complementation group 8 provide a genotype- phenotype correlation. (12851857) | Matsumoto N.... Fujiki Y. | 2003 | PEX26 |
| 19 | Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. (12794690) | Shimozawa N.... Kondo N. | 2003 | PEX1, PEX10, PEX6 |
| 20 | Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. (14713216) | Shimozawa N.... Kondo N. | 2003 | PEX10 |
| 21 | Biochemical markers predicting survival in peroxisome biogenesis disorders. (12473763) | Gootjes J.... Wanders R.J. | 2002 | GNPAT |
| 22 | Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (11992258) | Corzo D.... Steinberg S.J. | 2002 | ABCD1, BCAP31 |
| 23 | Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. (12402331) | Maxwell M.A.... Crane D.I. | 2002 | PEX1 |
| 24 | A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. (11873320) | Raas-Rothschild A.... Korman S.H. | 2002 | PEX6 |
| 25 | The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. (11355018) | Matsumoto N.... Fujiki Y. | 2001 | PEX6 |
| 26 | Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. (11439091) | Tamura S.... Fujiki Y. | 2001 | PEX1, PEX6 |
| 27 | Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. (10716247) | Wei H.... Smith K.D. | 2000 | SLC25A17 |
| 28 | Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders. (11330043) | Osumi T.... Kondo N. | 2000 | PEX2 |
| 29 | Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. (10862081) | Warren D.S.... Gould S.J. | 2000 | PEX10 |
| 30 | Peroxisome biogenesis and peroxisome biogenesis disorders. (10878247) | Fujiki Y. | 2000 | PEX7 |
| 31 | Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1. (11004248) | Imamura A.... Kondo N. | 2000 | PEX1, PEX6 |
| 32 | Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder. (10960480) | Fujiwara C.... Osumi T. | 2000 | CAT, ACOX1, ABCD3 |
| 33 | Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. (10332040) | Shimozawa N.... Kondo N. | 1999 | PEX13 |
| 34 | Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689) | Purdue P.E.... Lazarow P.B. | 1999 | PEX7 |
| 35 | Genomic structure and identification of 11 novel mutations of the PEX6 'peroxisome assembly factor-2' gene in patients with peroxisome biogenesis disorders. (10408779) | Zhang Z.... Kondo N. | 1999 | PEX6, DNAH8 |
| 36 | Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. (10384394) | Gartner J.... Biermanns M. | 1999 | PEX1 |
| 37 | Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. (10528859) | Shimozawa N.... Kondo N. | 1999 | GNPAT, PEX2 |
| 38 | PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders. (10441568) | Liu Y.... Gould S.J. | 1999 | PEX13 |
| 39 | Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. (9792857) | Chang C.C.... Gould S.J. | 1998 | PEX12 |
| 40 | Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. (9553082) | de Vet E.C.J.M.... van den Bosch H. | 1998 | AGPS |
| 41 | Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene. (9878256) | Bjorkman J.... Crane D.I. | 1998 | PEX13, PEX5 |
| 42 | Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. (9683594) | Warren D.S.... Gould S.J. | 1998 | PEX10 |
| 43 | Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. (9398847) | Reuber B.E.... Gould S.J. | 1997 | PEX1, PEX5, SLC25A17 |
| 44 | Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. (9398848) | Portsteffen H.... Dodt G. | 1997 | PEX1 |
| 45 | Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. (9090384) | Chang C.-C.... Gould S.J. | 1997 | PEX12 |
| 46 | Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. (8940266) | Fukuda S.... Kondo N. | 1996 | PEX6 |
| 47 | The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. (8670792) | Yahraus T.... Gould S.J. | 1996 | PEX6, PEX5, DNAH8 |
| 48 | Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. (7719337) | Dodt G.... Gould S.J. | 1995 | PEX5 |
