carnitine has been researched along with Syndrome in 48 studies
Syndrome: A characteristic symptom complex.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Propofol infusion syndrome is a rare but frequently fatal complication in critically ill children given long-term propofol infusions." | 7.71 | Impaired fatty acid oxidation in propofol infusion syndrome. ( Segar, P; Shield, J; Stone, J; Weir, P; Wolf, A, 2001) |
| "A patient with carnitine deficiency syndrome for tracheostomy and resection of tracheal granuloma was anesthetized with nitrous oxide and sevoflurane and vecuronium bromide." | 7.68 | [Anesthesia in a patient with carnitine deficiency syndrome]. ( Andoh, T; Kurahashi, K; Okumura, F; Sato, K; Yamazaki, S, 1993) |
| "The human primary carnitine deficiency syndromes are potentially fatal disorders affecting children and adults." | 7.67 | Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport. ( Engel, AG; Rebouche, CJ, 1984) |
| "L-Carnitine is an essential cofactor in transfer of long-chain fatty acids across the inner mitochondrial membrane." | 6.36 | Carnitine metabolism and deficiency syndromes. ( Engel, AG; Rebouche, CJ, 1983) |
| " In addition to the typical findings of Norman-Roberts syndrome, case 1 had atrial septal defect, corpus callosum agenesis, intracranial widespread calcification and case 2 had bilateral macular cherry-red spot, persistent foramen ovale, increased blood level of C6 hexanoylcarnitine, cavum septum pellucidum vergae anomaly and cerebellar atrophy." | 3.72 | Report of two Turkish infants with Norman-Roberts syndrome. ( Caksen, H; Cinal, A; Fryns, JP; Kirimi, E; Odabaş, D; Tuncer, O; Unal, O; Uner, A, 2004) |
| "Propofol infusion syndrome is a rare but frequently fatal complication in critically ill children given long-term propofol infusions." | 3.71 | Impaired fatty acid oxidation in propofol infusion syndrome. ( Segar, P; Shield, J; Stone, J; Weir, P; Wolf, A, 2001) |
| "A patient with carnitine deficiency syndrome for tracheostomy and resection of tracheal granuloma was anesthetized with nitrous oxide and sevoflurane and vecuronium bromide." | 3.68 | [Anesthesia in a patient with carnitine deficiency syndrome]. ( Andoh, T; Kurahashi, K; Okumura, F; Sato, K; Yamazaki, S, 1993) |
| "The human primary carnitine deficiency syndromes are potentially fatal disorders affecting children and adults." | 3.67 | Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport. ( Engel, AG; Rebouche, CJ, 1984) |
| "The syndrome of systemic carnitine deficiency (progressive muscle weakness, recurrent metabolic encephalopathy, low liver and muscle and fluctuating serum carnitine levels) has been attributed to a defect of carnitine biosynthesis." | 3.66 | In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency. ( Engel, AG; Rebouche, CJ, 1980) |
| "Fibromyalgia is a clinically defined chronic condition of unknown etiology characterized by chronic widespread pain that often co-exists with sleep disturbances, cognitive dysfunction and fatigue." | 2.58 | Serotonin and noradrenaline reuptake inhibitors (SNRIs) for fibromyalgia. ( Häuser, W; Klose, P; Üçeyler, N; Walitt, B; Welsch, P, 2018) |
| "Brugada syndrome is an autosomal dominant trait with right bundle branch block and ST elevation." | 2.43 | Pathogenesis of cardiac conduction disorders in children genetic and histopathologic aspects. ( Barness, LA; Gilbert-Barness, E, 2006) |
| "Many patients with chronic fatigue syndrome(CFS) fulfill the criteria of FMS and represent one end of a spectrum of presentation." | 2.40 | [Fibromyalgia syndrome]. ( Matsumoto, Y, 1999) |
| " These deal mainly with biochemical systems that are known to be affected by VPA, or with the possible idiosyncratic production of toxic VPA metabolites, especially delta 4-VPA." | 2.38 | Valproate hepatotoxicity syndrome: hypotheses of pathogenesis. ( Levy, RH; Stephens, JR, 1992) |
| "Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria." | 2.37 | Mitochondrial myopathies. ( Bonilla, E; DeVivo, DC; DiMauro, S; Nakagawa, M; Zeviani, M, 1985) |
| "L-Carnitine is an essential cofactor in transfer of long-chain fatty acids across the inner mitochondrial membrane." | 2.36 | Carnitine metabolism and deficiency syndromes. ( Engel, AG; Rebouche, CJ, 1983) |
| "Hyperammonemia is a rare, often fatal complication after transplantation." | 1.43 | Hyperammonemia Syndrome After Lung Transplantation: A Single Center Experience. ( Bain, KB; Byers, DE; Chen, C; Hachem, RR; Iuppa, JA; Patterson, GA; Trulock, EP; Witt, CA; Yusen, RD, 2016) |
| "At 6 weeks of age she started with convulsions reaching up to 20 myoclonic seizures a day." | 1.34 | [Glucose transponer type 1 deficiency síndrome (GLUT-1 SD) treated with ketogenic diet. Report of one case]. ( Cabello, JF; Colombo, MC; Cornejo, VE; Raimann, EB, 2007) |
| "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) |
| "Carnitine deficiency was found in skeletal muscle." | 1.26 | Carnitine deficiency of skeletal muscle: report of a treated case. ( Angelini, C; Cantarutti, F; Lücke, S, 1976) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 24 (50.00) | 18.7374 |
| 1990's | 10 (20.83) | 18.2507 |
| 2000's | 8 (16.67) | 29.6817 |
| 2010's | 4 (8.33) | 24.3611 |
| 2020's | 2 (4.17) | 2.80 |
| Authors | Studies |
|---|---|
| Sokolova, LP | 1 |
| Starykh, EV | 1 |
| Qutob, HMH | 1 |
| Saad, RA | 1 |
| Bali, H | 1 |
| Osailan, A | 1 |
| Jaber, J | 1 |
| Alzahrani, E | 1 |
| Alyami, J | 1 |
| Elsayed, H | 1 |
| Alserihi, R | 1 |
| Shaikhomar, OA | 1 |
| Divya, KM | 1 |
| Savitha, DP | 1 |
| Krishna, GA | 1 |
| Dhanya, TM | 1 |
| Mohanan, PV | 1 |
| Shah, SF | 1 |
| Jafry, AT | 1 |
| Hussain, G | 1 |
| Kazim, AH | 1 |
| Ali, M | 1 |
| Rivani, E | 1 |
| Endraswari, PD | 1 |
| Widodo, ADW | 1 |
| Khalil, MR | 1 |
| Guldberg, R | 1 |
| Nørgård, BM | 1 |
| Uldbjerg, N | 1 |
| Wehberg, S | 1 |
| Fowobaje, KR | 1 |
| Mashood, LO | 1 |
| Ekholuenetale, M | 1 |
| Ibidoja, OJ | 1 |
| Romagnoli, A | 1 |
| D'Agostino, M | 1 |
| Pavoni, E | 1 |
| Ardiccioni, C | 1 |
| Motta, S | 1 |
| Crippa, P | 1 |
| Biagetti, G | 1 |
| Notarstefano, V | 1 |
| Rexha, J | 1 |
| Perta, N | 1 |
| Barocci, S | 1 |
| Costabile, BK | 1 |
| Colasurdo, G | 1 |
| Caucci, S | 1 |
| Mencarelli, D | 1 |
| Turchetti, C | 1 |
| Farina, M | 1 |
| Pierantoni, L | 1 |
| La Teana, A | 1 |
| Al Hadi, R | 1 |
| Cicconardi, F | 1 |
| Chinappi, M | 1 |
| Trucchi, E | 1 |
| Mancia, F | 1 |
| Menzo, S | 1 |
| Morozzo Della Rocca, B | 1 |
| D'Annessa, I | 1 |
| Di Marino, D | 1 |
| Choya, A | 1 |
| de Rivas, B | 1 |
| Gutiérrez-Ortiz, JI | 1 |
| López-Fonseca, R | 1 |
| Xu, S | 1 |
| Cheng, B | 1 |
| Huang, Z | 1 |
| Liu, T | 1 |
| Li, Y | 1 |
| Jiang, L | 1 |
| Guo, W | 1 |
| Xiong, J | 1 |
| Amirazodi, M | 1 |
| Daryanoosh, F | 1 |
| Mehrabi, A | 1 |
| Gaeini, A | 1 |
| Koushkie Jahromi, M | 1 |
| Salesi, M | 1 |
| Zarifkar, AH | 1 |
| Studeny, P | 1 |
| Netukova, M | 1 |
| Nemcokova, M | 1 |
| Klimesova, YM | 1 |
| Krizova, D | 1 |
| Kang, H | 1 |
| Tao, Y | 1 |
| Zhang, Q | 1 |
| Sha, D | 1 |
| Chen, Y | 1 |
| Yao, J | 1 |
| Gao, Y | 1 |
| Liu, J | 1 |
| Ji, L | 1 |
| Shi, P | 1 |
| Shi, C | 1 |
| Wu, YL | 1 |
| Wright, AI | 1 |
| M El-Metwaly, N | 1 |
| A Katouah, H | 1 |
| El-Desouky, MG | 1 |
| El-Bindary, AA | 1 |
| El-Bindary, MA | 1 |
| Kostakis, ID | 1 |
| Raptis, DA | 1 |
| Davidson, BR | 1 |
| Iype, S | 1 |
| Nasralla, D | 1 |
| Imber, C | 1 |
| Sharma, D | 1 |
| Pissanou, T | 1 |
| Pollok, JM | 1 |
| Hughes, AM | 1 |
| Sanderson, E | 1 |
| Morris, T | 1 |
| Ayorech, Z | 1 |
| Tesli, M | 1 |
| Ask, H | 1 |
| Reichborn-Kjennerud, T | 1 |
| Andreassen, OA | 1 |
| Magnus, P | 1 |
| Helgeland, Ø | 1 |
| Johansson, S | 1 |
| Njølstad, P | 1 |
| Davey Smith, G | 1 |
| Havdahl, A | 1 |
| Howe, LD | 1 |
| Davies, NM | 1 |
| Amrillah, T | 1 |
| Prasetio, A | 1 |
| Supandi, AR | 1 |
| Sidiq, DH | 1 |
| Putra, FS | 1 |
| Nugroho, MA | 1 |
| Salsabilla, Z | 1 |
| Azmi, R | 1 |
| Grammatikopoulos, P | 1 |
| Bouloumis, T | 1 |
| Steinhauer, S | 1 |
| Mironov, VS | 2 |
| Bazhenova, TA | 2 |
| Manakin, YV | 2 |
| Yagubskii, EB | 2 |
| Yakushev, IA | 1 |
| Gilmutdinov, IF | 1 |
| Simonov, SV | 1 |
| Lan, K | 1 |
| Yang, H | 1 |
| Zheng, J | 1 |
| Hu, H | 1 |
| Zhu, T | 1 |
| Zou, X | 1 |
| Hu, B | 1 |
| Liu, H | 1 |
| Olokede, O | 1 |
| Wu, H | 2 |
| Holtzapple, M | 1 |
| Gungor, O | 1 |
| Kose, M | 1 |
| Ghaemi, R | 1 |
| Acker, M | 1 |
| Stosic, A | 1 |
| Jacobs, R | 1 |
| Selvaganapathy, PR | 1 |
| Ludwig, N | 1 |
| Yerneni, SS | 1 |
| Azambuja, JH | 1 |
| Pietrowska, M | 1 |
| Widłak, P | 1 |
| Hinck, CS | 1 |
| Głuszko, A | 1 |
| Szczepański, MJ | 1 |
| Kärmer, T | 1 |
| Kallinger, I | 1 |
| Schulz, D | 1 |
| Bauer, RJ | 1 |
| Spanier, G | 1 |
| Spoerl, S | 1 |
| Meier, JK | 1 |
| Ettl, T | 1 |
| Razzo, BM | 1 |
| Reichert, TE | 1 |
| Hinck, AP | 1 |
| Whiteside, TL | 1 |
| Wei, ZL | 1 |
| Juan, W | 1 |
| Tong, D | 1 |
| Juan, LX | 1 |
| Sa, LY | 1 |
| Jie, HFM | 1 |
| Xiao, G | 1 |
| Xiang, LG | 1 |
| Jie, HM | 1 |
| Xu, C | 1 |
| Yu, DN | 1 |
| Yao, ZX | 1 |
| Bigdeli, F | 1 |
| Gao, XM | 1 |
| Cheng, X | 1 |
| Li, JZ | 1 |
| Zhang, JW | 1 |
| Wang, W | 2 |
| Guan, ZJ | 1 |
| Bu, Y | 1 |
| Liu, KG | 1 |
| Morsali, A | 1 |
| Das, R | 1 |
| Paul, R | 1 |
| Parui, A | 1 |
| Shrotri, A | 1 |
| Atzori, C | 1 |
| Lomachenko, KA | 1 |
| Singh, AK | 1 |
| Mondal, J | 1 |
| Peter, SC | 1 |
| Florimbio, AR | 1 |
| Coughlin, LN | 1 |
| Bauermeister, JA | 1 |
| Young, SD | 1 |
| Zimmerman, MA | 1 |
| Walton, MA | 1 |
| Bonar, EE | 1 |
| Demir, D | 1 |
| Balci, AB | 1 |
| Kahraman, N | 1 |
| Sunbul, SA | 1 |
| Gucu, A | 1 |
| Seker, IB | 1 |
| Badem, S | 1 |
| Yuksel, A | 1 |
| Ozyazicioglu, AF | 1 |
| Goncu, MT | 1 |
| Zhang, H | 1 |
| Zhou, H | 1 |
| Deng, Z | 1 |
| Luo, L | 1 |
| Ong, SP | 1 |
| Wang, C | 1 |
| Xin, H | 1 |
| Whittingham, MS | 1 |
| Zhou, G | 1 |
| Maemura, R | 1 |
| Wakamatsu, M | 1 |
| Matsumoto, K | 1 |
| Sakaguchi, H | 1 |
| Yoshida, N | 1 |
| Hama, A | 1 |
| Yoshida, T | 1 |
| Miwata, S | 1 |
| Kitazawa, H | 1 |
| Narita, K | 1 |
| Kataoka, S | 1 |
| Ichikawa, D | 1 |
| Hamada, M | 1 |
| Taniguchi, R | 1 |
| Suzuki, K | 1 |
| Kawashima, N | 1 |
| Nishikawa, E | 1 |
| Narita, A | 1 |
| Okuno, Y | 1 |
| Nishio, N | 1 |
| Kato, K | 1 |
| Kojima, S | 1 |
| Morita, K | 1 |
| Muramatsu, H | 1 |
| Takahashi, Y | 1 |
| Yirgu, A | 1 |
| Mekonnen, Y | 1 |
| Eyado, A | 1 |
| Staropoli, A | 1 |
| Vinale, F | 1 |
| Zac, J | 1 |
| Zac, S | 1 |
| Pérez-Padilla, R | 1 |
| Remigio-Luna, A | 1 |
| Guzmán-Boulloud, N | 1 |
| Gochicoa-Rangel, L | 1 |
| Guzmán-Valderrábano, C | 1 |
| Thirión-Romero, I | 1 |
| Statsenko, ME | 1 |
| Turkina, SV | 1 |
| Barantsevich, ER | 1 |
| Karakulova, YV | 1 |
| Baranova, NS | 1 |
| Morzhukhina, MV | 1 |
| Wang, Q | 1 |
| Gu, Y | 1 |
| Chen, C | 2 |
| Qiao, L | 1 |
| Pan, F | 1 |
| Song, C | 1 |
| Canetto, SS | 1 |
| Entilli, L | 1 |
| Cerbo, I | 1 |
| Cipolletta, S | 1 |
| Wu, Y | 3 |
| Zhu, P | 1 |
| Jiang, Y | 1 |
| Zhang, X | 1 |
| Wang, Z | 1 |
| Xie, B | 1 |
| Song, T | 1 |
| Zhang, F | 1 |
| Luo, A | 1 |
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| Xiong, X | 1 |
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| Li, M | 1 |
| Huang, L | 1 |
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| Fang, W | 1 |
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| Ye, J | 1 |
| Liu, L | 1 |
| Islam, MR | 1 |
| Sanderson, P | 1 |
| Johansen, MP | 1 |
| Payne, TE | 1 |
| Naidu, R | 1 |
| Cao, J | 1 |
| Yang, J | 1 |
| Niu, X | 1 |
| Liu, X | 1 |
| Zhai, Y | 1 |
| Qiang, C | 1 |
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| Zhang, Y | 2 |
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| Lupetti, A | 1 |
| Gözüküçük, R | 1 |
| Cakiroglu, B | 1 |
| He, X | 1 |
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| Zhao, D | 2 |
| Zhang, L | 1 |
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| Fan, X | 1 |
| Chen, J | 1 |
| Wang, Y | 1 |
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| Sun, S | 1 |
| Cai, Z | 1 |
| Liu, Q | 1 |
| Ma, K | 1 |
| Sun, X | 1 |
| Drinkwater, JJ | 1 |
| Davis, TME | 1 |
| Turner, AW | 1 |
| Davis, WA | 1 |
| Suzuki, Y | 1 |
| Mizuta, Y | 1 |
| Mikagi, A | 1 |
| Misawa-Suzuki, T | 1 |
| Tsuchido, Y | 1 |
| Sugaya, T | 1 |
| Hashimoto, T | 1 |
| Ema, K | 1 |
| Hayashita, T | 1 |
| Welsch, P | 1 |
| Üçeyler, N | 1 |
| Klose, P | 1 |
| Walitt, B | 1 |
| Häuser, W | 1 |
| Han, L | 1 |
| He, Z | 1 |
| Zhang, J | 1 |
| Liu, Z | 1 |
| Fang, F | 1 |
| Ding, C | 1 |
| Lyu, J | 1 |
| Bain, KB | 1 |
| Iuppa, JA | 1 |
| Yusen, RD | 1 |
| Byers, DE | 1 |
| Patterson, GA | 1 |
| Trulock, EP | 1 |
| Hachem, RR | 1 |
| Witt, CA | 1 |
| Rico Corral, MA | 1 |
| de la Vega Vázquez, JM | 1 |
| Holgado Silva, C | 1 |
| Aznar Martín, A | 1 |
| Zamora Madaría, E | 1 |
| BORNICHE, P | 1 |
| CANLORBE, P | 1 |
| NECCHIDELLASILVA, A | 1 |
| SEVERGNINI, B | 1 |
| Bok, LA | 1 |
| Vreken, P | 1 |
| Wijburg, FA | 1 |
| Wanders, RJ | 1 |
| Gregersen, N | 1 |
| Corydon, MJ | 1 |
| Waterham, HR | 1 |
| Duran, M | 1 |
| Caksen, H | 1 |
| Tuncer, O | 1 |
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| Fryns, JP | 1 |
| Uner, A | 1 |
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| Colombo, MC | 1 |
| Raimann, EB | 1 |
| De la Morena, E | 1 |
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| Lücke, S | 1 |
| Cantarutti, F | 1 |
| Stephens, JR | 1 |
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| DiMauro, S | 1 |
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| Yderstraede, KB | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| In Vivo Study of Safety, Tolerability and Dosing Effect on SMN mRNA and Protein Levels of Valproic Acid in Patients With Spinal Muscular Atrophy[NCT00374075] | Phase 1 | 42 participants | Interventional | 2003-09-30 | Completed | ||
| Phase I/II Trial of Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy Type I (CARNI-VAL Type I)[NCT00661453] | Phase 1/Phase 2 | 40 participants (Actual) | Interventional | 2008-04-30 | Completed | ||
| Multi-center Phase II Trial of Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy (SMA CARNI-VAL Trial)[NCT00227266] | Phase 2 | 94 participants (Actual) | Interventional | 2005-09-30 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
(NCT00661453)
Timeframe: -2 weeks, time 0, 3 months, 6 months
| Intervention | g (Mean) | |||||
|---|---|---|---|---|---|---|
| Lean Mass Baseline | Lean Mass 3 months | Lean Mass 6 months | Fat Mass Baseline | Fat Mass 3 months | Fat Mass 6 months | |
| SMA Type 1 | 4317.15 | 4993.92 | 5133.83 | 3011.37 | 3618.25 | 4316.08 |
The maximum Compound Motor Action Potential (CMAP) is a measurement obtained through EMG testing that is associated with disease progression. In this study, we measure the maximum CMAP by stimulating one nerve in the hand and measuring the response of the muscle. This is done multiple times, the outcome used is the highest peak, or response observed. (NCT00227266)
Timeframe: 1 month prior to official enrollment, beginning of study (0 months), 6 months, 12 months (data point not available)
| Intervention | mV (Mean) | |
|---|---|---|
| Baseline | 6 months | |
| Cohort 1a Sitters Placebo Then Treatment | 2.28 | 2.32 |
| Cohort 1b Sitters Treatment | 2.93 | 2.37 |
| Cohort 2 Standers and Walkers - Treatment | 5.52 | 6.56 |
The maximum Compound Motor Action Potential (CMAP) is a measurement obtained through EMG testing that is associated with disease progression. In this study, we measure the maximum CMAP by stimulating one nerve in the hand and measuring the response of the muscle. This is done multiple times, the outcome used is the highest peak, or response observed. (NCT00227266)
Timeframe: 1 month prior to official enrollment, beginning of study (0 months), 6 months, 12 months (data point not available)
| Intervention | mV (Median) | |
|---|---|---|
| Baseline | 6 months | |
| Cohort 1a Sitters Placebo Then Treatment | 1.91 | 1.44 |
| Cohort 1b Sitters Treatment | 2.2 | 1.8 |
| Cohort 2 Standers and Walkers - Treatment | 5.3 | 5.85 |
The maximum Compound Motor Action Potential (CMAP) area is a measurement obtained through EMG testing that is associated with disease progression. In this study, we measure the maximum CMAP by stimulating one nerve in the hand and measuring the response of the muscle. This procedure is repeated multiple times. The maximum area is the response that results in the largest area under the response curve. (NCT00227266)
Timeframe: 1 month prior to official enrollment, beginning of study (0 months), 6 months, 12 months (data point not available)
| Intervention | mVms (Mean) | |
|---|---|---|
| Baseline | 6 months | |
| Cohort 1a Sitters Placebo Then Treatment | 5.46 | 5.28 |
| Cohort 1b Sitters Treatment | 5.45 | 5.26 |
| Cohort 2 Standers and Walkers - Treatment | 14.85 | 16.26 |
The maximum Compound Motor Action Potential (CMAP) area is a measurement obtained through EMG testing that is associated with disease progression. In this study, we measure the maximum CMAP by stimulating one nerve in the hand and measuring the response of the muscle. This procedure is repeated multiple times. The maximum area is the response that results in the largest area under the response curve. (NCT00227266)
Timeframe: 1 month prior to official enrollment, beginning of study (0 months), 6 months, 12 months (data point not available)
| Intervention | mVms (Median) | |
|---|---|---|
| Baseline | 6 months | |
| Cohort 1a Sitters Placebo Then Treatment | 3.6 | 3.74 |
| Cohort 1b Sitters Treatment | 4.6 | 3.4 |
| Cohort 2 Standers and Walkers - Treatment | 13.65 | 16.85 |
Comparison of Modified Hammersmith Change from baseline to 6 months. Scores range from 0 to 40. A higher score indicates a better outcome. This scale is used to assess gross motor abilities of non-ambulant children with SMA in multiple research trials as well as in clinical settings. (NCT00227266)
Timeframe: 0 months, 6 months
| Intervention | Score (Mean) | ||
|---|---|---|---|
| Baseline visit (0 weeks) | 6 Month visit (V2) | Change from Baseline | |
| Cohort 1a Sitters Placebo Then Treatment | 20.0 | 20.6 | 0.6 |
| Cohort 1b Sitters Treatment | 16.6 | 16.8 | 0.2 |
"Baseline Modified Hammersmith Extend testing. The baseline test is the score they receive during their screening visits. This scale ranges from 0 to 56. A higher score indicates a better outcome.~This scale is used to assess gross motor abilities of children with SMA in multiple research trials as well as in clinical settings." (NCT00227266)
Timeframe: 1 month prior to enrollment, at enrollment (0 months)
| Intervention | Score (Mean) | |
|---|---|---|
| Modified Hammersmith Extend at S1 (-4 weeks) | Modified Hammersmith Extend at S2 (0 weeks) | |
| Cohort 2 Experimental | 47.0 | 48.3 |
10 reviews available for carnitine and Syndrome
| Article | Year |
|---|---|
Impact of dexamethasone and tocilizumab on hematological parameters in COVID-19 patients with chronic disease.
Topics: Acetaminophen; Acetylcarnitine; Acetylcholinesterase; Acids; Acinetobacter baumannii; Acinetobacter | 2022 |
Serotonin and noradrenaline reuptake inhibitors (SNRIs) for fibromyalgia.
Topics: Adrenergic Uptake Inhibitors; Adult; Carnitine; Cyclopropanes; Desvenlafaxine Succinate; Duloxetine | 2018 |
[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].
Topics: Carnitine; Child; DNA, Mitochondrial; Dystonia; Europe; Female; Homozygote; Humans; Magnetic Resonan | 2014 |
Pathogenesis of cardiac conduction disorders in children genetic and histopathologic aspects.
Topics: Arrhythmias, Cardiac; Cardiomyopathy, Hypertrophic; Carnitine; Female; Heart Block; Heart Conduction | 2006 |
Drug-induced myasthenic syndromes.
Topics: Adrenergic beta-Antagonists; Adult; Anti-Arrhythmia Agents; Anti-Bacterial Agents; Autoimmune Diseas | 1984 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
Carnitine metabolism and deficiency syndromes.
Topics: Adolescent; Adult; Aged; Brain Diseases; Carnitine; Chemical Phenomena; Chemistry; Child; Child, Pre | 1983 |
[Fibromyalgia syndrome].
Topics: Biomarkers; Carnitine; Diagnosis, Differential; Fatigue; Fatigue Syndrome, Chronic; Fibromyalgia; Hu | 1999 |
Valproate hepatotoxicity syndrome: hypotheses of pathogenesis.
Topics: Ammonia; Animals; Carnitine; Chemical and Drug Induced Liver Injury; Humans; Liver; Liver Diseases; | 1992 |
[Human syndromes of carnitine deficiency (a review)].
Topics: Carnitine; Child; Humans; Liver; Muscles; Syndrome | 1988 |
Mitochondrial myopathies.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Cytochromes; DNA, Mitochondrial; Humans; Microscopy, El | 1985 |
2 trials available for carnitine and Syndrome
| Article | Year |
|---|---|
Impact of dexamethasone and tocilizumab on hematological parameters in COVID-19 patients with chronic disease.
Topics: Acetaminophen; Acetylcarnitine; Acetylcholinesterase; Acids; Acinetobacter baumannii; Acinetobacter | 2022 |
Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Carnitine | 1996 |
37 other studies available for carnitine and Syndrome
| Article | Year |
|---|---|
[Asthenic syndrome in general therapeutic practice].
Topics: Asthenia; Carnitine; Humans; Syndrome | 2022 |
Identification of the plasma metabolomics as early diagnostic markers between biliary atresia and neonatal hepatitis syndrome.
Topics: Amino Acids; Biliary Atresia; Biomarkers; Carnitine; Chromatography, Liquid; Demography; Discriminan | 2014 |
Hyperammonemia Syndrome After Lung Transplantation: A Single Center Experience.
Topics: Aged; Ammonia; Arginine; Biomarkers; Carnitine; Combined Modality Therapy; Decontamination; Female; | 2016 |
[Carnitine deficiency myopathy: a case of late diagnosis].
Topics: Adult; Carnitine; Female; Humans; Lipid Metabolism, Inborn Errors; Muscular Diseases; Syndrome | 2002 |
[Clinical and humoral action of carnitine in the syndromes of post-infectious malnutrition in infancy].
Topics: Carnitine; Child; Folic Acid; Humans; Infant; Infant Nutrition Disorders; Infections; Malnutrition; | 1960 |
[ON TREATMENT OF DYSPROTIDEMIC SYNDROMES IN GERIATRICS].
Topics: Anabolic Agents; Blood Protein Disorders; Carnitine; Geriatrics; Humans; Lysine; Steroids; Syndrome; | 1965 |
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
Topics: Amino Acid Substitution; Anemia, Hemolytic; Butyryl-CoA Dehydrogenase; Carnitine; Consanguinity; DNA | 2003 |
Report of two Turkish infants with Norman-Roberts syndrome.
Topics: 1-Alkyl-2-acetylglycerophosphocholine Esterase; Atrophy; Brain; Carnitine; Cell Movement; Cerebellum | 2004 |
L-carnitine in cyclical vomiting syndrome.
Topics: Antiemetics; Carnitine; Child; Humans; Male; Syndrome; Vomiting | 2004 |
Acquired carnitine deficiency: a clinical model for propofol infusion syndrome?
Topics: Adult; Anesthetics, Intravenous; Carnitine; Fatty Acids; Humans; Mitochondria; Oxidation-Reduction; | 2005 |
[Glucose transponer type 1 deficiency síndrome (GLUT-1 SD) treated with ketogenic diet. Report of one case].
Topics: Anticonvulsants; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Carnitine; Dietary Fats; Ery | 2007 |
Low serum L-carnitine concentrations in toxic oil syndrome.
Topics: Carnitine; Female; Humans; Male; Oils; Spain; Syndrome | 1982 |
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.
Topics: Adenosine Triphosphatases; Adult; Aged; Ca(2+) Mg(2+)-ATPase; Cardiomyopathies; Carnitine; Cytochrom | 1983 |
[Carnitine deficiency myopathy].
Topics: Adult; Carnitine; Female; Histocytochemistry; Humans; Middle Aged; Mitochondria, Muscle; Muscles; Mu | 1984 |
Carnitine metabolism and inborn errors.
Topics: Carnitine; Child; Female; Humans; Male; Metabolism, Inborn Errors; Muscles; Syndrome | 1984 |
Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport.
Topics: Adult; Biological Transport; Carnitine; Child; Child, Preschool; Circadian Rhythm; Diet; Extracellul | 1984 |
Lipid myopathy. Case report and review.
Topics: Adult; Animals; Carnitine; Diagnosis, Differential; Humans; Lipid Metabolism; Male; Muscles; Neuromu | 1984 |
A note on "orthomolecular aids for dieting"--myasthenic syndrome due to dl-carnitine.
Topics: Animals; Anuria; Carnitine; Humans; Neuromuscular Diseases; Obesity; Rats; Syndrome | 1982 |
In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency.
Topics: Adolescent; Adult; Aldehyde Oxidoreductases; Aldehyde-Lyases; Betaine; Carnitine; Child; Child, Pres | 1980 |
[Percussion-auscultation syndrome of carnitine deficiency].
Topics: Adult; Aged; Auscultation; Carnitine; Environmental Monitoring; Female; Humans; Male; Middle Aged; P | 1994 |
Barth syndrome: clinical observations and genetic linkage studies.
Topics: Abnormalities, Multiple; Acids; Cardiomyopathy, Dilated; Carnitine; Diseases in Twins; Dwarfism; Ele | 1994 |
[Anesthesia in a patient with carnitine deficiency syndrome].
Topics: Adolescent; Anesthesia, General; Carnitine; Ethers; Female; Granuloma; Humans; Methyl Ethers; Nitrou | 1993 |
Specific myocardial disease caused by multisystemic triglyceride storage in Jordans' anomaly.
Topics: Adult; Cardiomyopathy, Dilated; Carnitine; Female; Humans; Leukocytes; Lipid Metabolism, Inborn Erro | 1993 |
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 |
Impaired fatty acid oxidation in propofol infusion syndrome.
Topics: Acidosis; Carnitine; Critical Care; Electron Transport; Fatty Acids; Hemofiltration; Humans; Hypnoti | 2001 |
Lipid storage myopathy with normal carnitine levels.
Topics: Acetyltransferases; Acid Phosphatase; Adenosine Triphosphatases; Adult; Carnitine; Electromyography; | 1975 |
Further studies of mitochondrial and lipid storage myopathies.
Topics: Adolescent; Adult; Brain; Carnitine; Female; Humans; Lipidoses; Male; Middle Aged; Mitochondria, Mus | 1978 |
The syndrome of carnitine deficiency: morphological and metabolic correlations in two cases.
Topics: Adult; Carnitine; Child; Child, Preschool; Histocytochemistry; Humans; Liver; Male; Muscles; Muscula | 1978 |
Myopathy with paroxysmal myoglobinuria and focal muscle necrosis following enfluorane anaesthesia.
Topics: Adenylyl Cyclases; Adolescent; Carnitine; Carnitine O-Palmitoyltransferase; Enflurane; Glycogen; Hum | 1978 |
Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case.
Topics: Acidosis; Carnitine; Child; Hepatomegaly; Humans; Male; Mitochondria, Muscle; Muscles; Muscular Dise | 1977 |
Carnitine deficiency of skeletal muscle: report of a treated case.
Topics: Carnitine; Child; Female; Humans; Mitochondria, Muscle; Muscles; Muscular Diseases; Syndrome; Vacuol | 1976 |
[Dialysis-associated disequilibrium syndrome and the prevention and therapy].
Topics: Animals; Autonomic Nervous System Diseases; Brain Edema; Carnitine; Humans; Hyponatremia; Hypotensio | 1992 |
Myopathy in Williams-Beuren syndrome.
Topics: Adult; Biopsy; Carnitine; Child; Child, Preschool; Contracture; Face; Female; Heart Defects, Congeni | 1991 |
Chronic fatigue and myalgia syndrome: mitochondrial and glycolytic studies in skeletal muscle.
Topics: Adult; Aged; Aged, 80 and over; Asthenia; Carnitine; Chronic Disease; Electron Transport Complex IV; | 1987 |
[Carnitine deficiency syndromes].
Topics: Carnitine; Humans; Syndrome | 1986 |
[Carnitine. Deficiency syndromes and their treatment].
Topics: Carnitine; Humans; Lipid Metabolism; Metabolic Diseases; Syndrome | 1985 |
Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome.
Topics: Acyltransferases; Adult; Carbon Isotopes; Carnitine; Coenzyme A Ligases; Fatty Acids; Female; Humans | 1973 |