mevalonic acid/fiebre

El enlace se guarda en el portapapeles.

ArtículosEnsayos clínicosPatentes

Elija el tipo de clasificación

Página 1 desde 18 resultados

A Case of Hyper IgD and Periodic Fever Syndrome in Japan.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

We report a four-year-old Japanese girl with hyper IgD and periodic fever syndrome. There is a first report of hyper IgD syndrome (HIDS) of which the genomic study was done in Japan. In this report a girl complained of periodic fever and abdominal symptoms accompanied with high levels of mevalonic

[Hyperimmunoglobulinemia D and periodic fever syndrome].

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

We report the cases of two sisters born of parents who were first-degree cousins, who started recurrent fever with lymph node and digestive tract involvement at the age of 2 years. There was no mutation of the familial Mediterranean fever gene and a diagnosis of partial mevalonate kinase (MVK)

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

OBJECTIVE The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was found recently to be caused by a deficiency of mevalonate kinase (MK). The aim of this study was to examine whether a relationship exists between the clinical expression of HIDS and the extent of MK

Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyperimmunoglobulin D syndrome and mevalonic aciduria, presenting with recurrent fever episodes, often starting in infancy, and sometimes evoked by stress or vaccinations. This autoinflammatory

A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnosis of Mevalonate Kinase Deficiency, that now has an FDA approved treatment

Mevalonate kinase deficiency and Dutch type periodic fever.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

Dutch type periodic fever (DPF) is an autosomal recessive hereditary fever syndrome. Cases have been reported worldwide, the majority from France and The Netherlands. From infancy the patients suffer fever attacks that recur every 2-8 weeks, often precipitated by immunizations, infections or

Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

OBJECTIVE To describe biochemical findings and the spectrum of mevalonate kinase (MVK) gene mutations as well as an associated TNFRSF1A low-penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS). METHODS The MVK gene was

Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

Hyperimmunoglobulinemia D (hyper-IgD) and periodic fever syndrome, a hereditary autoinflammatory syndrome, is characterized by lifelong recurrent episodes of fever and inflammation. No effective treatment is known. It is caused by a defect of mevalonate kinase, an enzyme that follows

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an autosomal recessive disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Diagnostic hallmark of HIDS is a constitutively elevated level

Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

OBJECTIVE Mevalonate kinase deficiency, a rare autosomal recessive autoinflammatory disease, is caused by mutations in the MVK gene encoding mevalonate kinase (MK). MK catalyzes the phosphorylation of mevalonic acid to mevalonate-5-phosphate (MVAP) in the pathway of isoprenoid and sterol synthesis.

The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

Mevalonate kinase catalyzes the ATP-dependent phosphorylation of mevalonic acid to form mevalonate 5-phosphate, a key intermediate in the pathways of isoprenoids and sterols. Deficiency in mevalonate kinase activity has been linked to mevalonic aciduria and hyperimmunoglobulinemia D/periodic fever

Ultrasonographic findings in hyperimmunoglobulin D syndrome: a case report.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

Hyperimmunoglobulin D syndrome due to mevalonate kinase deficiency is a rare autoinflammatory disease with digestive tract involvement. We report an 11-year female child who has presented since the age of 1 year, bouts of fever, rash, joint swelling, pulmonary consolidation, lymph node involvement

Hyper-IgD syndrome with novel mutation in a Japanese girl.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is an autosomal recessive auto-inflammatory disorder characterized by recurrent febrile attacks with lymphadenopathy, abdominal distress, skin eruptions and joint involvement. We discuss the case of a 15-year-old Japanese girl who had

[Identification of the gene for hyper-IgD syndrome: a model of modern genetics].

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) is a rare autosomal recessive disorder. Patients suffer from recurrent attacks (3-6 days) with fever, abdominal distress, lymphadenopathy, skin lesions and arthralgias. Patients display a constantly elevated serum IgD which serves as a

A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.

Solo los usuarios registrados pueden traducir artículos

Iniciar sesión Registrarse

Mevalonate kinase deficiency (MKD) is a rare inborn error of metabolism caused by mutations in the mevalonate kinase (MVK) gene. The clinical phenotype is variable, ranging from the hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) to mevalonic aciduria (MA), a severe metabolic disease.

Únete a nuestra
página de facebook

Herbal & Natural Medicine

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.