carnitine has been researched along with Marfan Syndrome in 1 studies
Marfan Syndrome: An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.
| Excerpt | Relevance | Reference |
|---|---|---|
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 7.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 3.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Heil, SG | 1 |
| Hogeveen, M | 1 |
| Kluijtmans, LA | 1 |
| van Dijken, PJ | 1 |
| van de Berg, GB | 1 |
| Blom, HJ | 1 |
| Morava, E | 1 |
1 other study available for carnitine and Marfan Syndrome
| Article | Year |
|---|---|
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational An | 2007 |