mucopolysaccharidoses/crise epiléptica

O link é salvo na área de transferência

ArtigosTestes clínicosPatentes

Escolha o tipo de classificação

Página 1 a partir de 28 resultados

Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome).

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

Mucopolysaccharidosis type II or Hunter syndrome (MPS II) is a genetic disease that can course with intellectual impairment and central nervous system (CNS) alterations. To date, no report has documented electroencephalogram (EEG) measures associated with CNS alterations, detected by imaging

The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

Two patients with a complete deletion of the iduronate-2-sulphatase (IDS) gene are described. In both patients, the resulting phenotype was that of very severe Hunter syndrome (mucopolysaccharidosis II). In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures

An Uncommon Presentation of Mucopolysaccharidosis Type IIIb.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

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

Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue and organ dysfunction. In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler),

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

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

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

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

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

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

Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

Current therapies for the mucopolysaccharidoses (MPS) do not effectively address skeletal and neurological manifestations. Pentosan polysulfate (PPS) is an alternative treatment strategy that has been shown to improve bone architecture, mobility, and neuroinflammation in MPS animals. The aims of

Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

OBJECTIVE To identify early clinical markers of neurologic involvement in mucopolysaccharidosis type II. METHODS A retrospective review of neurobehavioral standardized assessments of patients with mucopolysaccharidosis type II evaluated at the Program for Neurodevelopmental Function in Rare

A clinical study of 77 patients with mucopolysaccharidosis type II.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

OBJECTIVE This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). METHODS Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or

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

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

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

Epilepsy in mucopolysaccharidosis disorders.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. MPS patients present with

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

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

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

Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

The mucopolysaccharidoses (MPS) represent a heterogeneous group of lysosomal storage disorders, each one associated with a deficiency in one of the enzymes involved in glycosaminoglycan degradation. Sleep disorders are a frequent manifestation of all types of MPS. Underlying causes are diverse and

Nocturnal frontal lobe epilepsy in mucopolysaccharidosis.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

Nocturnal frontal lobe epilepsy (NFLE) is an epileptic syndrome that is primarily characterized by seizures with motor signs occurring almost exclusively during sleep. We describe 2 children with mucopolysaccharidosis (MPS) who were referred for significant sleep disturbance. Long term video-EEG

Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

Sandhoff disease (SD) is a fatal neurodegenerative disease caused by a mutation in the enzyme β-N-acetylhexosaminidase. Children with infantile onset SD develop seizures, loss of motor tone and swallowing problems, eventually reaching a vegetative state with death typically by 4years of age. Other

Junte-se à nossa
página do facebook

Herbal & Natural Medicine

O mais completo banco de dados de ervas medicinais apoiado pela ciência

Funciona em 55 idiomas
Curas herbais apoiadas pela ciência
Reconhecimento de ervas por imagem
Mapa GPS interativo - marcar ervas no local (em breve)
Leia publicações científicas relacionadas à sua pesquisa
Pesquise ervas medicinais por seus efeitos
Organize seus interesses e mantenha-se atualizado com as notícias de pesquisa, testes clínicos e patentes

Digite um sintoma ou doença e leia sobre ervas que podem ajudar, digite uma erva e veja as doenças e sintomas contra os quais ela é usada.
* Todas as informações são baseadas em pesquisas científicas publicadas