Recent Publications on Zellweger Syndrome: |  |
| [Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile]
| 19th September, 2008
| Seccion de Neuropediatria, Hospital Infantil Universitario Miguel Servet,
|
Urine acylcarnitine analysis by ESI-MS/MS: A new tool for the diagnosis of peroxisomal biogenesis disorders.
BACKGROUND: Patients with peroxisomal biogenesis disorders (PBDs) have an...
Direct Link | 17th September, 2008
| Division of Metabolism, Bambino Gesu Research Institute, Piazza S. Onofrio
|
| [Peroxisomal diseases: an analysis of ferritin levels in Zellweger's cerebrohepatorenal syndrome]
| 16th September, 2008
|
|
Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid beta-oxidation.
Recently, we reported that baicalein 5,6,7-trimethyl ether (BTM), a...
Direct Link | 10th September, 2008
| Department of Biological Chemistry, Graduate School of Medicine and
|
Identification of a novel PEX14 mutation in Zellweger syndrome.
BACKGROUND: Peroxisome biogenesis disorders are a clinically and...
Direct Link | 12th August, 2008
|
|
Mechanisms of disease: Inborn errors of bile acid synthesis.
Inborn errors of bile acid synthesis are rare genetic disorders that can...
Direct Link | 26th June, 2008
| Section of Pediatric Gastroenterology, Hepatology and Nutrition,
|
Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.
The pathogenesis of hypoketotic hypoglycemia and cardiomyopathy in...
Direct Link | 22nd April, 2008
| Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases
|
Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients.
Patients with defects in the biogenesis of peroxisomes include those with...
Direct Link | 17th April, 2008
| Department of Pediatrics and Pediatric Neurology, Georg August University,
|
Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p involved in shuttling of the PTS1 receptor Pex5p in peroxisome biogenesis.
The peroxisome is a single-membrane-bound organelle found in eukaryotes....
Direct Link | 28th February, 2008
| Department of Biology, Faculty of Sciences, Kyushu University Graduate
|
Drug delivery to peroxisomes: employing unique trafficking mechanisms to target protein therapeutics.
Peroxisomes are multifunctional organelles of all human cells, responsible...
Direct Link | 21st December, 2007
| Department of Pharmacology, Wayne State University School of Medicine, 540
|
Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
Zellweger syndrome (ZS) is an autosomal recessive peroxisomal disorder...
Direct Link | 14th December, 2007
| Wessex Clinical Genetics Service, Southampton University Hospital NHS
|
Early dietary treatments with Lorenzo's oil and docosahexaenoic acid for neurological development in a case with Zellweger syndrome.
We treated a girl with Zellweger syndrome using a special infant formula...
Direct Link | 7th December, 2007
| Department of Pediatrics, Juntendo University School of Medicine, 2-1-1
|
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.
Mutations in 12 different PEX genes can cause a generalized peroxisomal...
Direct Link | 1st September, 2007
| Day Hospitalization Unit, Schneider Children's Medical Center of Israel,
|
| [Pathogenic gene in an inherited peroxisome disorder and its cellular dysfunction]
| 20th July, 2007
| Department of Biology, Faculty of Sciences, Kyushu University Graduate
|
| Systematic isolation and characterization of cDNAs encoding AAA proteins from human brain.
| 8th June, 2007
| Department of Neurology, University of Michigan Medical Center, Ann Arbor,
|
