Spanish
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)
ornithine carbamoyltransferase deficiency disease/prolina
El enlace se guarda en el portapapeles.
5 resultados
Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Single-strand conformational polymorphism (SSCP) and direct sequencing were used to confirm or deny carrier status in three families with ornithine transcarbamylase (OTC) enzyme deficiency. Two male probands with "late onset" OTC deficiency, whose "private" mutations were previously characterized,
Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
BACKGROUND
The occurrence of male patients with ornithine transcarbamylase (OTC) deficiency during adolescence or in adulthood has now been recognized. The aim of this study was to determine the prognostic factors that affect the prognosis of life, to explore a basis for therapeutic
A case of ornithine transcarbamylase deficiency with acute and late onset simulating Reye's syndrome in an adult male.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
A 15-year-old male was admitted to the hospital because of a disturbance of consciousness. He was in good mental and physical condition until the previous day, when he vomited and experienced a reduction of consciousness. He was brought to the hospital the day following the onset of symptoms. On
[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
We have investigated a 3 year old girl with mental and physical retardation, chronic hyperammonemia and orotic aciduria. Plsma glutamine, alanine and proline concentrations were high. Alanine was present in her urine. She excreted only half the urea of control subjects on a similar protein intake.
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
Solo los usuarios registrados pueden traducir artículos
Iniciar sesión Registrarse
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle in humans and is responsible for lethal neonatal hyperammonemia in males. Partial OTC deficiency also occurs in females and can be responsible for life-threatening hyperammonemic comas in heterozygotes. The
La base de datos de hierbas medicinales más completa respaldada por la ciencia
- Funciona en 55 idiomas
- Curas a base de hierbas respaldadas por la ciencia
- Reconocimiento de hierbas por imagen
- Mapa GPS interactivo: etiquete hierbas en la ubicación (próximamente)
- Leer publicaciones científicas relacionadas con su búsqueda
- Buscar hierbas medicinales por sus efectos.
- Organice sus intereses y manténgase al día con las noticias de investigación, ensayos clínicos y patentes.
Escriba un síntoma o una enfermedad y lea acerca de las hierbas que podrían ayudar, escriba una hierba y vea las enfermedades y los síntomas contra los que se usa.
* Toda la información se basa en investigaciones científicas publicadas.
