carnitine has been researched along with Abnormalities, Multiple in 7 studies
Abnormalities, Multiple: Congenital abnormalities that affect more than one organ or body structure.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Acylcarnitines were measured by electrospray ionization tandem mass spectrometry (ESI-MS/MS)." | 1.42 | Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. ( Abdenur, JE; Appadurai, V; Besse, A; Bonnen, PE; Cambray-Forker, EJ; Ferdinandusse, S; Leydiker, KB; Stiles, AR, 2015) |
| "Carnitine is a key molecule in energy metabolism that helps transport activated fatty acids into the mitochondria." | 1.40 | The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile. ( Akrami, SM; Rashidi-Nezhad, A; Reymond, A; Saebnouri, H; Talebi, S, 2014) |
| "Barth syndrome is an X-linked recessive condition characterized by skeletal myopathy, cardiomyopathy, proportionate short stature, and recurrent neutropenia, but with normal cognitive function." | 1.29 | Barth syndrome: clinical observations and genetic linkage studies. ( Becker, LE; Bridge, PJ; Christodoulou, J; Clarke, JT; Jay, V; Lehotay, DC; McInnes, RR; Platt, BA; Robinson, BH; Wilson, G, 1994) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 3 (42.86) | 18.2507 |
| 2000's | 2 (28.57) | 29.6817 |
| 2010's | 2 (28.57) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Rashidi-Nezhad, A | 1 |
| Talebi, S | 1 |
| Saebnouri, H | 1 |
| Akrami, SM | 1 |
| Reymond, A | 1 |
| Stiles, AR | 1 |
| Ferdinandusse, S | 1 |
| Besse, A | 1 |
| Appadurai, V | 1 |
| Leydiker, KB | 1 |
| Cambray-Forker, EJ | 1 |
| Bonnen, PE | 1 |
| Abdenur, JE | 1 |
| Rodrigues Pereira, R | 1 |
| van Ede, CM | 1 |
| Beemer, FA | 1 |
| Distelmaier, F | 1 |
| Vogel, M | 1 |
| Spiekerkötter, U | 1 |
| Gempel, K | 1 |
| Klee, D | 1 |
| Braunstein, S | 1 |
| Groneck, HP | 1 |
| Mayatepek, E | 1 |
| Wendel, U | 1 |
| Schwahn, B | 1 |
| Christodoulou, J | 1 |
| McInnes, RR | 1 |
| Jay, V | 1 |
| Wilson, G | 1 |
| Becker, LE | 1 |
| Lehotay, DC | 1 |
| Platt, BA | 1 |
| Bridge, PJ | 1 |
| Robinson, BH | 1 |
| Clarke, JT | 1 |
| Powell, BR | 1 |
| Budden, SS | 1 |
| Buist, NR | 1 |
| Toshimori, K | 1 |
| Kuwajima, M | 1 |
| Yoshinaga, K | 1 |
| Wakayama, T | 1 |
| Shima, K | 1 |
7 other studies available for carnitine and Abnormalities, Multiple
| Article | Year |
|---|---|
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile.
Topics: Abnormalities, Multiple; Calcinosis; Carnitine; Carrier Proteins; Child, Preschool; Chromosome Delet | 2014 |
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
Topics: Abnormalities, Multiple; Adolescent; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, | 2015 |
Successful carnitine therapy for Raynaud's phenomenon in velo-cardio-facial syndrome.
Topics: Abnormalities, Multiple; Adolescent; Carnitine; Chromosome Deletion; Chromosomes, Human, Pair 22; Fe | 2003 |
Cystic renal dysplasia as a leading sign of inherited metabolic disease.
Topics: Abnormalities, Multiple; Acidosis; Carnitine; Carnitine O-Palmitoyltransferase; Fatal Outcome; Femal | 2007 |
Barth syndrome: clinical observations and genetic linkage studies.
Topics: Abnormalities, Multiple; Acids; Cardiomyopathy, Dilated; Carnitine; Diseases in Twins; Dwarfism; Ele | 1994 |
Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome.
Topics: Abnormalities, Multiple; Administration, Oral; Biopsy, Needle; Brain; Carnitine; Child; Child, Presc | 1993 |
Dysfunctions of the epididymis as a result of primary carnitine deficiency in juvenile visceral steatosis mice.
Topics: Abnormalities, Multiple; Animals; Carnitine; Disease Models, Animal; Epididymis; Fertility; Male; Mi | 1999 |