mucopolysaccharidosis iii/eпилептички напад

Веза се чува у привремену меморију

ЧланциКлиничка испитивањаПатенти

Изаберите тип сортирања

12 резултати

An Uncommon Presentation of Mucopolysaccharidosis Type IIIb.

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by a lysosomal enzyme deficiency in the catabolic pathway of heparan sulfate. The patients with mucopolysaccharidosis type III usually present with declined neurocognitive functions such as speech and

A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

The aim of this study was to analyze the clinical and imaging features of a pediatric patient with mucopolysaccharidosis type IIIA (MPS IIIA) and a novel mutation of the N-sulfoglucosamine sulfohydrolase (SGSH) in 1 pedigree.An 8-year-old female patient

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) has a variable age of onset and variable rate of progression. However, information regarding the natural history of this disorder in Asian populations is limited. A retrospective analysis was carried out for 28 patients with MPS III

Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome).

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically

Urinary sialic acid screening in neurologic disorders.

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

Urine sialic acid was measured in 246 patients evaluated for possible neurodegenerative disorders. Total, free, and bound sialic acid excretion declined significantly with patients' ages. Among 11 patients (4.5%) with age-related excretion rates greater than 2 standard deviations above the mean, 5

[Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance].

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

We reported 19 cases of school-aged children. They were initially judged to have learning difficulty or school maladaptation because of attention deficits, hyperactive behaviors or poor school performance, followed by the diagnosis such as degenerative or metabolic neurological diseases. The

GeneReviews®

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum

Long-term outcome in children with intractable epilepsy showing bilateral diffuse cortical glucose hypometabolism pattern on positron emission tomography.

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

The objective of this study is to determine the long-term outcome of children with intractable epilepsy who have diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans. Seventeen children with intractable epilepsy showing bilateral, diffuse

The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report.

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

BACKGROUND A 13-year-old child was clinically diagnosed with mucopolysaccharidosis type VI-Maroteaux-Lamy syndrome (MPS VI) at the age of 5 years, and the diagnosis was confirmed biochemically and genetically (homozygous mutation in ARSB gene). At that time, his older brother manifested with

Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice.

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

Mucopolysaccharidosis type IIIB (Sanfilippo syndrome) is a lysosomal storage disease caused by a genetic defect in the production of alpha-N-acetylglucosaminidase. This results in lysosomal and extracellular accumulation of the undegraded glycosaminoglycan (GAG) substrate, heparan sulphate. Affected

Inherited metabolic disorders in Turkish patients with autism spectrum disorders.

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

Autism spectrum disorders (ASDs) are a major health problem because of their high prevalence in the general population. The pathophysiology of ASD remains unclear, although genetic defects may be detected in 10-20% of affected patients. Among these cases, the prevalence of inherited metabolic

Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

Само регистровани корисници могу преводити чланке

Пријави се / Пријави се

Sanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of N-acetyl-alpha-D-glucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulfate. It is characterized by neurologic degeneration, behavioral problems, and mental decline. Somatic

Придружите се нашој
facebook страници

Herbal & Natural Medicine

Најкомплетнија база лековитог биља подржана науком

Ради на 55 језика
Биљни лекови потпомогнути науком
Препознавање биљака по слици
Интерактивна ГПС мапа - означите биље на локацији (ускоро)
Читајте научне публикације повезане са вашом претрагом
Претражите лековито биље по њиховим ефектима
Организујте своја интересовања и будите у току са истраживањем вести, клиничким испитивањима и патентима

Упишите симптом или болест и прочитајте о биљкама које би могле да помогну, укуцајте неку биљку и погледајте болести и симптоме против којих се користи.
* Све информације се заснивају на објављеним научним истраживањима