منابع مشابه
Cerebrospinal fluid analysis in the diagnosis of treatable inherited disorders of neurotransmitter metabolism
Cerebrospinal fluid analysis in the diagnosis of treatable inherited disorders of neurotransmitter metabolism The inherited disorders affecting dopamine and serotonin (5-hydroxytryptamine) metabolism are being recognized as treatable causes of neurological problems that affect infants, children and adults. Diagnosis of these conditions in many cases requires that neurotransmitter metabolites, a...
متن کاملState of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.
This review is designed to provide practical help for the clinical neurologist to make appropriate use of the possibilities of molecular diagnosis of inherited movement disorders. Huntington's disease, Parkinson's disease and parkinsonian syndromes, ataxias, Wilson disease, essential tremor, dystonias, and other genetic diseases associated with a variety of movement disorders are considered sep...
متن کاملPrevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
BACKGROUND Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders. METHODS This retrospective cohort study does not have inclusion criteria; rather included all patients who underwent cerebrospinal fluid (CSF) homovanillic and 5-hydroxyindol ...
متن کاملRecessively inherited coagulation disorders.
Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecu...
متن کاملInherited hyperuricemic disorders.
Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature. The overproduction of hyperuricemias result from deficiency of hypoxanthine-guanine phosphoribosyl transferase, overactivity of phosphoribosylpyrop...
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: Journal of the Neurological Sciences
سال: 2019
ISSN: 0022-510X
DOI: 10.1016/j.jns.2019.10.035