Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1985 2
1986 1
1987 2
1988 2
1989 3
1991 3
1992 2
1995 2
1997 1
1998 1
1999 1
2000 2
2001 3
2002 1
2003 1
2004 1
2006 1
2008 1
2012 1
2015 1
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

34 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Peroxisome biogenesis disorder 1B"
Page 1
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.
Peroxisome biogenesis disorders (PBDs) are severe autosomal recessive neurological diseases caused by a defect of peroxisomal assembly factors. Zellweger syndrome, the most severe phenotype, is characterized by hypotonia, psychomotor retardation and neuronal migrati …
Peroxisome biogenesis disorders (PBDs) are severe autosomal recessive neurological diseases caused by a defect of peroxisomal …
Hepatocyte transplantation for liver-based metabolic disorders.
Dhawan A, Mitry RR, Hughes RD. Dhawan A, et al. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):431-5. doi: 10.1007/s10545-006-0245-8. J Inherit Metab Dis. 2006. PMID: 16763914 Review.
Twenty patients have now received hepatocyte transplantation, including eight children at King's College Hospital. There was a range of aetiologies of liver disease: familial hypercholesterolaemia, Crigler-Najjar syndrome type 1, urea cycle defects, infantile Ref …
Twenty patients have now received hepatocyte transplantation, including eight children at King's College Hospital. There was a range of aeti …
Biogenesis of peroxisomes in fetal liver.
Espeel M, Depreter M, Nardacci R, D'Herde K, Kerckaert I, Stefanini S, Roels F. Espeel M, et al. Microsc Res Tech. 1997 Dec 1;39(5):453-66. doi: 10.1002/(SICI)1097-0029(19971201)39:5<453::AID-JEMT8>3.0.CO;2-H. Microsc Res Tech. 1997. PMID: 9408912 Review.
The present article gives an overview of microscopic studies and recent unpublished results dealing with peroxisome biogenesis in mammalian fetal liver and presents data on peroxisomes in oocytes. ...In the liver of affected fetuses, the microscopic features associa …
The present article gives an overview of microscopic studies and recent unpublished results dealing with peroxisome biogenesis …
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G. Walter C, et al. Am J Hum Genet. 2001 Jul;69(1):35-48. doi: 10.1086/321265. Epub 2001 Jun 1. Am J Hum Genet. 2001. PMID: 11389485 Free PMC article.
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD) are clinically overlapping syndromes, collectively called "peroxisome biogenesis disorders" (PBDs), with clinical features being most severe in ZS …
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD) are clinically overla …
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
Gootjes J, Schmohl F, Waterham HR, Wanders RJ. Gootjes J, et al. Eur J Hum Genet. 2004 Feb;12(2):115-20. doi: 10.1038/sj.ejhg.5201090. Eur J Hum Genet. 2004. PMID: 14571262
The peroxisome biogenesis disorders (PBDs) form a genetically and clinically heterogeneous group of disorders due to defects in at least 11 distinct genes. The prototype of this group of disorders is Zellweger syndrome (ZS), with neonatal adrenoleukodystrophy (NALD) …
The peroxisome biogenesis disorders (PBDs) form a genetically and clinically heterogeneous group of disorders due to defects i …
Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.
Roels F, Espeel M, De Craemer D. Roels F, et al. J Inherit Metab Dis. 1991;14(6):853-75. doi: 10.1007/BF01800464. J Inherit Metab Dis. 1991. PMID: 1779645 Review.
This review of the literature also contains novel observations about the following syndromes: cerebro-hepato-renal (Zellweger) syndrome, X-linked and neonatal adrenoleukodystrophies (ALD, NALD), NALD-like syndromes, infantile phytanic acid storage, classical Refs …
This review of the literature also contains novel observations about the following syndromes: cerebro-hepato-renal (Zellweger) syndro …
Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans.
Imamura A, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, Fujiki Y, Orii T, Osumi T, Kondo N. Imamura A, et al. Brain Dev. 2000 Jan;22(1):8-12. doi: 10.1016/s0387-7604(99)00072-8. Brain Dev. 2000. PMID: 10761827
We have found that peroxisome assembly is temperature-sensitive (ts) in mild forms of peroxisome biogenesis disorders (PBDs), that is all infantile Refsum disease (IRD) patients and a few neonatal adrenoleukodystrophy patients of several …
We have found that peroxisome assembly is temperature-sensitive (ts) in mild forms of peroxisome biogenesis disorders ( …
Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells.
Yajima S, Suzuki Y, Shimozawa N, Yamaguchi S, Orii T, Fujiki Y, Osumi T, Hashimoto T, Moser HW. Yajima S, et al. Hum Genet. 1992 Mar;88(5):491-9. doi: 10.1007/BF00219334. Hum Genet. 1992. PMID: 1372585
Genetic heterogeneity in peroxisome-deficient disorders, including Zellweger's cerebrohepatorenal syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease, was investigated. ...Five complementation groups were identified. Group A: Zellweger …
Genetic heterogeneity in peroxisome-deficient disorders, including Zellweger's cerebrohepatorenal syndrome, neonatal adrenoleukodystr …
Biochemical markers predicting survival in peroxisome biogenesis disorders.
Gootjes J, Mooijer PA, Dekker C, Barth PG, Poll-The BT, Waterham HR, Wanders RJ. Gootjes J, et al. Neurology. 2002 Dec 10;59(11):1746-9. doi: 10.1212/01.wnl.0000036609.14203.70. Neurology. 2002. PMID: 12473763
OBJECTIVE: To identify prognostic markers reflecting the extent of peroxisome dysfunction in primary skin fibroblasts from patients with peroxisome biogenesis disorders (PBD). ...Zellweger syndrome is the prototype of this group of disorders, with neonatal ad …
OBJECTIVE: To identify prognostic markers reflecting the extent of peroxisome dysfunction in primary skin fibroblasts from patients w …
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
Slawecki ML, Dodt G, Steinberg S, Moser AB, Moser HW, Gould SJ. Slawecki ML, et al. J Cell Sci. 1995 May;108 ( Pt 5):1817-29. doi: 10.1242/jcs.108.5.1817. J Cell Sci. 1995. PMID: 7544797
Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and classical rhizomelic chondrodysplasia punctata are lethal genetic disorders caused by defects in peroxisome biogenesis. We report here a characterization of the p …
Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and classical rhizomelic chondrodysplasi …
34 results