Hyperphenylalaninemia syndromes: Current status of diagnosis and management.
نویسندگان
چکیده
منابع مشابه
Current understanding in diagnosis and management of factor XIII deficiency
Factor XIII or "fibrin-stabilizing factor," is a transglutaminase circulates in the blood circulation as a hetero tetramer with two catalytic A subunits and two carrier B subunits. This important coagulation factor has a crucial role in clotting cascade and produces strong covalent bonds between soluble formed fibrin monomers during coagulation. This stable cross linked fibrin strands are resis...
متن کاملManagement of phenylketonuria and hyperphenylalaninemia.
Hyperphenylalaninemia (HPA) is the most frequently inherited disorder of amino acid metabolism (prevalence 1:10,000). In France, a nationwide neonatal screening was organized in 1978 to control its efficacy and patient follow-up. Phenylketonuria (PKU) was diagnosed in 81.6% of screened patients, the remaining affected with either non-PKU HPA (17.2%) or with cofactor deficiency (1.1%). French gu...
متن کاملGenital tuberculosis: current status of diagnosis and management
Genitourinary Tuberculosis (GUTB) is the second most common extra-pulmonary manifestation of tuberculosis (Tb) and an isolated involvement of genital organs is reported in 5-30% of the cases. Genital involvement results from primary reactivation of latent bacilli either in the epididymis or the prostate or by secondary spread from the already infected urinary organs. The epididymis are the comm...
متن کاملAutoinflammatory syndromes: diagnosis and management
During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and in the recognition of affected patients. In this paper we will discuss the most important clues of monogenic and non-genetic inflammatory syndr...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Keio Journal of Medicine
سال: 1988
ISSN: 1880-1293,0022-9717
DOI: 10.2302/kjm.37.1