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Four Novel Thymidine Phosphorylase Gene Mutations In Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (Mngie) Patients
(Nature Publishing Group, 2003)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish IVINGIE patients ...
Worldwide Distribution And Broader Clinical Spectrum Of Muscle-Eye-Brain Disease
(Oxford Univ Press, 2003)
Muscle-eye-brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is characterized by congenital muscular dystrophy, brain malformation and ocular abnormalities. Since the MEB phenotype overlaps ...
Is the Novel Sckl3 at 14Q23 the Predominant Seckel Locus?
(Nature Publishing Group, 2003)
Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel ...
Solid-Phase Enzyme Modification Via Affinity Chromatography
(Elsevier Science Bv, 2003)
In the present study antileukemic enzyme L-asparaginase (ASNase) and catalase (as a model enzyme) were modified in solid-phase with activated polyethylene glycol (PEG,) by using ligand-immobilized affinity column systems ...
Mutation Screening Of Patients With Leber Congenital Amaurosis Or The Enhanced S-Cone Syndrome Reveals A Lack Of Sequence Variations In The Nrl Gene
(Molecular Vision, 2003)
Purpose: To determine if mutations in the retinal transcription factor gene NRL are associated with retinopathies other than autosomal dominant retinitis pigmentosa (adRP). Methods: Genomic DNA was isolated from blood ...
Neopterin Profile To Evaluate The Effectiveness Of Treatment In Aggressive Periodontitis
(Walter De Gruyter Gmbh, 2003)
Periodontal disease results from the interaction of the host defence mechanisms with the microbial dental plaque. Analysis of gingival crevicular fluid (GCF) provides a non-invasive means of evaluating the role of the host ...