mucopolysaccharidoses/seizures

Länken sparas på Urklipp

ArtiklarKliniska testerPatent

Välj sorteringstyp

Sida 1 från 28 resultat

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

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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).

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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).

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

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

Tidigare
1
2
Nästa

Gå med på vår
facebook-sida

Herbal & Natural Medicine

Den mest kompletta databasen med medicinska örter som stöds av vetenskapen

Fungerar på 55 språk
Växtbaserade botemedel som stöds av vetenskap
Örter igenkänning av bild
Interaktiv GPS-karta - märka örter på plats (kommer snart)
Läs vetenskapliga publikationer relaterade till din sökning
Sök efter medicinska örter efter deras effekter
Organisera dina intressen och håll dig uppdaterad med nyheterna, kliniska prövningar och patent

Skriv ett symptom eller en sjukdom och läs om örter som kan hjälpa, skriv en ört och se sjukdomar och symtom den används mot.
* All information baseras på publicerad vetenskaplig forskning