منابع مشابه
Congenital bleeding disorders.
Both clinical and basic problems related to the congenital bleeding disorders continue to confront hematologists. On the forefront are efforts to bring genetic correction of the more common bleeding disorders such as hemophilia A to the clinic in a safe and accessible manner. A second issue, particularly for patients with hemophilia, is the development of inhibitors-questions of how they arise ...
متن کاملCongenital oro-motor disorders.
Children with congenital oro-motor disorders (COMD) are not numerous. However, as a group, they merit special consideration as management of diseases leading to COMD is complex, owing to their protracted and varying course, the diverse areas of health care involved, and the significant amount of resources their treatment requires.1 The term oro-motor disorders (OMD) refers to a group of disease...
متن کاملCongenital disorders of glycosylation.
Congenital disorders of glycosylation (CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement. The CDG causing sialic acid deficiency of N-glycans can be diagnosed by isoelectrofocusing of serum sialotransferrins. An effic...
متن کاملInhibitors in congenital coagulation disorders.
The development of inhibitory 'allo' antibodies to a deficient coagulation factor is arguably now the most severe and important complication of clotting factor concentrate exposure in haemophilia and other congenital coagulation disorders. Furthermore, development of an inhibitor to the factor VIII or factor IX transgene product remains a significant concern in gene therapy protocols for haemop...
متن کاملCongenital fibrinogen disorders: an update.
Hereditary fibrinogen abnormalities comprise two classes of plasma fibrinogen defects: Type I, afibrinogenemia or hypofibrinogenemia, which has absent or low plasma fibrinogen antigen levels (quantitative fibrinogen deficiencies), and Type II, dysfibrinogenemia or hypodysfibrinogenemia, which shows normal or reduced antigen levels associated with disproportionately low functional activity (qual...
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ژورنال
عنوان ژورنال: Orvosi Hetilap
سال: 2011
ISSN: 0030-6002,1788-6120
DOI: 10.1556/oh.2011.29271