Titlebook: Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria; R. A. Harkness,R. J. Pollitt,G. M. Addison Book 1990 Society for the S

神刊

Regulation of Galactose Metabolism: Implications for Therapy,ere is a need for new strategies in treatment. The enhancement of residual enzyme activity in tissues of galactosaemic patients should provide such an approach. This possibility is derived from knowledge of the regulation of transferase activity in normal animal tissues. The pertinent observations s

microscopic

The Mechanisms of Cataract Formation,ataract formation in older patients are described, especially with respect to lens protein modifications and epidemiological results. In most cases, cataract in older people is a multifactorial process and therefore cataracts appear in a multitude of different morphological types. Only accurate docu

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Cataract and Metabolic Disease,ncy, Lowe’s syndrome and diabetes, several other disorders can also lead to the development of cataracts. They are sorbitol dehydrogenase deficiency, uridine diphosphate galactose-4-epimerase deficiency, marginal maternal transferase and galactokinase deficiency, galactitol and sorbitol accumulation

教育学

发酵

Disorders of Glycoprotein Degradation,ic defects in any of the enzymes cleaving the oligosaccharide side chains lead to specific diseases because of an excessive lysosomal accumulation of partially degraded material, mostly oligosaccharides..This paper presents an overview of the biochemistry and the clinical spectrum of this group of d

Pedagogy

,- and ,- Mannosidoses,he tissue of choice for carrier detection in .-mannosidosis. Metabolic labelling studies using [.H] mannose demonstrated accumulation of Man.1-4GlcNAc in cultured skin fibroblasts from a patient with this condition. Alternative methods of egress from lysosomes were suggested for this compound by its

不要严酷

Schindler Disease: an Inherited Neuroaxonal Dystrophy due to ,-,-Acetylgalactosaminidase Deficiencyinidase are described. This neurodegenerative disorder was recognized in two brothers who had the typical clinical manifestations and neuropathological lesions observed in patients with Seitelberger disease, the infantile form of neuroaxonal dystrophy. Axonal ‘spheroids’ were observed histologically

GREEN

Advances in the Molecular Genetics of Metachromatic Leukodystrophy,omal storage of cerebroside sulphate, which leads to a progressive demyelination of the nervous system. The patients usually die within a few years from the onset of symptoms. Clinically, there are different forms of the disease and the molecular basis for this heterogeneity is unknown. The gene for

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Displacement Bone Marrow Transplantation for Some Inborn Errors,nors, only available for about 1 in 5 patients. Improved inductions enabled alternative donors from the family or unrelated volunteers to be used. Measurement of the extent of engraftment by donor cell markers or their normal enzymes showed the need for displacement, which aims to obtain 100% donor-

安慰

Clinical Application of Somatic Gene Therapy in Inborn Errors of Metabolism,h the genetically defective function will be restored by transfer of a normal gene into somatic cells. The therapeutic potential and safety of gene therapy has been explored in cultured cells and experimental animals, but therapeutic clinical trials have not yet been proposed or performed. The techn