Deutsch
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
mucolipidoses/ataxie
Der Link wird in der Zwischenablage gespeichert
Seite 1 von 41 Ergebnisse
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis
Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Sialidosis is a rare lysosomal storage disease with a wide clinical spectrum ranging from nearly asymptomatic to severe presentations. We present two Brazilian siblings with sialidosis, the first patient with sialidosis type I, and the second with sialidosis type II. Our report reinforces the
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1
Reduction in Myoclonus and Ataxia Following the Use of Perampanel in Patient With Sialidosis Type 1.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Clinical and Genetic Characteristics of Type I Sialidosis Patients in Mainland China
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Objective: Type I sialidosis (ST-1) is a rare autosomal recessive inherited disorder. To date, there has been no study on ST-1 patients in mainland China.
Methods: We reported in detail the cases of five Chinese ST-1 patients from
[A case of middle-aged onset sialidosis type I].
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
We reported a patient with middle-aged onset sialidosis type I. A 52-year-old Japanese man was referred to our hospital because of dysarthria, involuntary movement of his extremities and gait disturbance since the age of 46 years. On admission, neurological examination revealed scanning speech,
[Mucolipidosis type I. Sialidosis due to alpha-2-6-neuraminidase deficiency with neurological symptoms].
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
A case close to mucolipidosis I was observed and the description of this mucolipidosis has to be revised since there were initially some confusions with mannosidosis. Three types of abnormalities appear to be important in its distinction from the other types of oligosaccharidoses: presence on the
Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
A case of adult type mucolipidosis with beta-galactosidase and sialidase deficiency is described. This patient, a woman aged 20, had mental retardation, macular cherry-red spots, corneal clouding, gargoyle-like face, cerebellar ataxia, myoclonus and convulsions beginning at the age of 14. Bony
Sialidosis type 2 in Japan. Clinical study in two siblings' cases and review of literature.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Clinical and biochemical findings in two siblings (24-year-old sister and 20-year-old brother), born to consanguineous parents, are described. Both showed progressive generalized myoclonus, macular cherry-red spots, moderate cerebellar ataxia, coarse facies, vertebral deformities, vacuolation of
Neuraminidase in mucolipidoses: normal activity in frozen autopsy tissues from three patients with I-cell disease and adult beta-galactosidase deficiency.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Neuraminidase was assayed in the frozen autopsy tissues from three patients with I-cell disease and an adult patient with cherry-red spots, myoclonus, cerebellar ataxia and beta-galactosidase deficiency. Both diseases showed normal neuraminidase activity toward neuramine lactose and fetuin in
Seizure remission and improvement of neurological function in sialidosis with perampanel therapy.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
A 15-year-old boy experienced myoclonic seizures for 3 years. He initially had occasional myoclonus, gradually progressive ataxia, tremors, and psychomotor and speech regression developed. Eventually, he exhibited nearly continuous myoclonus. He received treatment of sodium valproate, levetiracetam,
Sialidoses.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. The patient developed an unsteady gait at age 14 and was referred to our hospital at age 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia,
Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.
Nur registrierte Benutzer können Artikel übersetzen
Einloggen Anmelden
A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots.
Die vollständigste Datenbank für Heilkräuter, die von der Wissenschaft unterstützt wird
- Arbeitet in 55 Sprachen
- Von der Wissenschaft unterstützte Kräuterkuren
- Kräutererkennung durch Bild
- Interaktive GPS-Karte - Kräuter vor Ort markieren (in Kürze)
- Lesen Sie wissenschaftliche Veröffentlichungen zu Ihrer Suche
- Suchen Sie nach Heilkräutern nach ihrer Wirkung
- Organisieren Sie Ihre Interessen und bleiben Sie über Neuigkeiten, klinische Studien und Patente auf dem Laufenden
Geben Sie ein Symptom oder eine Krankheit ein und lesen Sie über Kräuter, die helfen könnten, geben Sie ein Kraut ein und sehen Sie Krankheiten und Symptome, gegen die es angewendet wird.
* Alle Informationen basieren auf veröffentlichten wissenschaftlichen Forschungsergebnissen
