Titlebook: Inborn Errors of Metabolism in Humans; Monograph based upon Forrester Cockburn,Richard Gitzelmann Conference proceedings 1982 The Society f

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nascent

Recent studies on the maturation of lysosomal enzymesly, that the location and history of the hydrolases affects their structure. Because acid hydrolases are glycoproteins, the structural variations may be in the polypeptide or the carbohydrate portions of the molecule.

繁重

Artificial cell-encapsulated enzymes and adsorbents in congenital metabolic disordersh extracellular or intracellular accumulation of metabolites, which might be helped by the removal of the metabolites from the extracellular fluid; and (2) those with intracellular accumulation of metabolites which cannot be removed by extracellular means.

calorie

Murine mutations affecting myelination: models to study myelin diseases in the humanthe peripheral nervous system (PNS). During the process of myelin formation, the cytoplasm is extruded and the cellular leaflets are fused to form the major dense line (Figure 13.2). The external surfaces come together and form the myelin intraperiod line (also called minor dense line, Figure 13.2).

Ischemic-Stroke

完整

Homocystinuria: clinical and biochemical heterogeneitynotypes, both clinical and biochemical in nature, are often caused by a variety of different genotypes; in other words, heterogeneity abounds. One such disorder demonstrating heterogeneity is the condition first described as homocystinuria.

Ebct207

atopic-rhinitis

矛盾心理

Molecular aspects of genetic heterogeneity that it is a common and widespread feature of inherited disease.. In other words, one can now say that ‘genetic heterogeneity’ is the rule rather than the exception, and its possible implications must be considered in the analysis of any inherited clinical disorder.

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