carnitine has been researched along with Cystinosis in 5 studies
Cystinosis: A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The renal tubular Fanconi syndrome of children with nephropathic cystinosis causes plasma and muscle carnitine depletion." | 7.68 | Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis. ( Bernardini, IM; Charnas, LR; Dalakas, MC; Gahl, WA; Krasnewich, DM; Markello, TC, 1993) |
| "11 children with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome." | 7.67 | Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. ( Bernar, J; Bernardini, I; Dalakas, M; Gahl, WA; Harper, GS; Hoeg, JM; Hurko, O; Rizzo, WB, 1988) |
| "The renal tubular Fanconi syndrome of children with nephropathic cystinosis causes plasma and muscle carnitine depletion." | 3.68 | Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis. ( Bernardini, IM; Charnas, LR; Dalakas, MC; Gahl, WA; Krasnewich, DM; Markello, TC, 1993) |
| "11 children with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome." | 3.67 | Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. ( Bernar, J; Bernardini, I; Dalakas, M; Gahl, WA; Harper, GS; Hoeg, JM; Hurko, O; Rizzo, WB, 1988) |
| "Plasma and urine free and acyl carnitine were measured in 19 children with nephropathic cystinosis and renal Fanconi syndrome." | 3.67 | Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome. ( Bernar, J; Bernardini, I; Dalakas, M; Gahl, WA; Rizzo, WB, 1985) |
| "Free carnitine (C0) was measured by tandem mass spectrometry in fasting blood samples." | 1.42 | [COMPARISON OF FREE CARNITINE LEVELS WITH NUTRITIONAL STATUS IN INFANTILE NEPHROPATHYC CISTINOSIS PATIENTS]. ( Belmont Martínez, L; Guillén-López, S; Ibarra-González, I; Juárez-Cruz, MV; Vela-Amieva, M, 2015) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (40.00) | 18.7374 |
| 1990's | 2 (40.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (20.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Guillén-López, S | 1 |
| Ibarra-González, I | 1 |
| Belmont Martínez, L | 1 |
| Juárez-Cruz, MV | 1 |
| Vela-Amieva, M | 1 |
| Vilaseca, MA | 1 |
| Camacho, JA | 1 |
| Briones, P | 1 |
| Farré, C | 1 |
| Mas, A | 1 |
| Gahl, WA | 3 |
| Bernardini, IM | 1 |
| Dalakas, MC | 1 |
| Markello, TC | 1 |
| Krasnewich, DM | 1 |
| Charnas, LR | 1 |
| Bernardini, I | 2 |
| Dalakas, M | 2 |
| Rizzo, WB | 2 |
| Harper, GS | 1 |
| Hoeg, JM | 1 |
| Hurko, O | 1 |
| Bernar, J | 2 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders[NCT00369421] | 4,000 participants (Anticipated) | Observational | 1978-09-12 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
5 other studies available for carnitine and Cystinosis
| Article | Year |
|---|---|
[COMPARISON OF FREE CARNITINE LEVELS WITH NUTRITIONAL STATUS IN INFANTILE NEPHROPATHYC CISTINOSIS PATIENTS].
Topics: Adolescent; Adult; Body Mass Index; Carnitine; Child; Child, Preschool; Cystinosis; Female; Humans; | 2015 |
Biochemical follow-up in late-treated nephropathic cystinosis.
Topics: Carnitine; Creatinine; Cysteamine; Cysteine; Cystinosis; Disease Progression; Female; Follow-Up Stud | 1995 |
Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.
Topics: Carnitine; Child; Child, Preschool; Cystinosis; Drug Administration Schedule; Fanconi Syndrome; Huma | 1993 |
Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.
Topics: Administration, Oral; Biological Transport; Carnitine; Cells, Cultured; Child; Child, Preschool; Cho | 1988 |
Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.
Topics: Carnitine; Child; Child, Preschool; Cystinosis; Fanconi Syndrome; Humans; Infant; Kidney; Muscles | 1985 |