Zellweger Syndrome

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Recent Publications on Zellweger Syndrome:
[Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile] INTRODUCTION: The aetiology and clinical features of peroxisomal diseases...	2nd July, 2008	Seccion de Neuropediatria, Hospital Infantil Universitario Miguel Servet,	Rev Neurol. 2008 Jul 1-15;47(1):1-5.
Mechanisms of Disease: inborn errors of bile acid synthesis. Inborn errors of bile acid synthesis are rare genetic disorders that can...	26th June, 2008	SS Sundaram is an Assistant Professor of Pediatrics in the Section of	Nat Clin Pract Gastroenterol Hepatol. 2008 Jun 24;. DOI Direct Link
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...	13th May, 2008	Department of Biological Chemistry, Graduate School of Medicine and	J Inherit Metab Dis. 2008 Jun;31(3):442-9. Epub 2008 May 9. DOI Direct Link
Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation. The pathogenesis of hypoketotic hypoglycemia and cardiomyopathy in...	22nd April, 2008	Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases	Mol Genet Metab. 2008 Apr;93(4):403-10. Epub 2008 Feb 20. DOI Direct Link
Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. Patients with defects in the biogenesis of peroxisomes include those with...	17th April, 2008	Department of Pediatrics and Pediatric Neurology, Georg August University,	J Inherit Metab Dis. 2008 Apr 14;. DOI Direct Link
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Zellweger Syndrome Clinical Trials:
Study of Oral Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis	Infantile Refsum's Disease;   Zellweger Syndrome;   Hyperpipecolic Acidemia;   Adrenoleukodystrophy;   Peroxisomal Disorders;   Cholestasis;   Bifunctional Enzyme Deficiency
Study of Bile Acids in Patients With Peroxisomal Disorders	Infantile Refsum's Disease;   Zellweger Syndrome;   Bifunctional Enzyme Deficiency;   Adrenoleukodystrophy

Zellweger Syndrome Patents:
US Patent No.	Title
6994857	Albumin fusion proteins
7109000	Proteins and nucleic acids encoding same
7141420	Nucleic acid and amino acid sequences for ATP-binding cassette transporter and methods of screening for agents that modify ATP-binding cassette transporter
7141547	Albumin fusion proteins comprising GLP-1 polypeptides
7157240	MID 4460, a human tyrosine phosphatase family member and uses therefor
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BioPortfolio Ltd. offers e-mail and postal lists for Zellweger Syndrome scientists - we have details of around 75 individuals working on Zellweger Syndrome .

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