phosphomevalonic acid has been researched along with Mevalonate Kinase Deficiency in 2 studies
phosphomevalonic acid: RN given refers to cpd without isomeric designation
Mevalonate Kinase Deficiency: Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (50.00) | 24.3611 |
| 2020's | 1 (50.00) | 2.80 |
| Authors | Studies |
|---|---|
| Yıldız, Ç | 3 |
| Gezgin Yıldırım, D | 3 |
| Inci, A | 3 |
| Tümer, L | 3 |
| Cengiz Ergin, FB | 3 |
| Sunar Yayla, ENS | 3 |
| Esmeray Şenol, P | 3 |
| Karaçayır, N | 3 |
| Eğritaş Gürkan, Ö | 3 |
| Okur, I | 3 |
| Ezgü, FS | 3 |
| Bakkaloğlu, SA | 3 |
| Reitzle, L | 1 |
| Maier, B | 1 |
| Stojanov, S | 1 |
| Teupser, D | 1 |
| Muntau, AC | 1 |
| Vogeser, M | 1 |
| Gersting, SW | 1 |
2 other studies available for phosphomevalonic acid and Mevalonate Kinase Deficiency
| Article | Year |
|---|---|
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Topics: Child; Hereditary Autoinflammatory Diseases; Humans; Immunoglobulin D; Male; Mevalonate Kinase Defic | 2023 |
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Topics: Child; Hereditary Autoinflammatory Diseases; Humans; Immunoglobulin D; Male; Mevalonate Kinase Defic | 2023 |
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Topics: Child; Hereditary Autoinflammatory Diseases; Humans; Immunoglobulin D; Male; Mevalonate Kinase Defic | 2023 |
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Topics: Child; Hereditary Autoinflammatory Diseases; Humans; Immunoglobulin D; Male; Mevalonate Kinase Defic | 2023 |
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Topics: Child; Hereditary Autoinflammatory Diseases; Humans; Immunoglobulin D; Male; Mevalonate Kinase Defic | 2023 |
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Topics: Child; Hereditary Autoinflammatory Diseases; Humans; Immunoglobulin D; Male; Mevalonate Kinase Defic | 2023 |
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Topics: Child; Hereditary Autoinflammatory Diseases; Humans; Immunoglobulin D; Male; Mevalonate Kinase Defic | 2023 |
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Topics: Child; Hereditary Autoinflammatory Diseases; Humans; Immunoglobulin D; Male; Mevalonate Kinase Defic | 2023 |
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.
Topics: Child; Hereditary Autoinflammatory Diseases; Humans; Immunoglobulin D; Male; Mevalonate Kinase Defic | 2023 |
Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity.
Topics: Chromatography, Liquid; Humans; Mevalonate Kinase Deficiency; Mevalonic Acid; Models, Molecular; Pho | 2015 |