carnitine has been researched along with Ataxia with Lactic Acidosis in 7 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "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) |
| "The patient was diagnosed with pyruvate dehydrogenase complex deficiency by sequence analysis of PDHA1 gene." | 1.40 | [Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case]. ( Cai, Y; Cheng, J; Fan, L; Li, X; Lin, R; Liu, H; Liu, L; Lu, Z; Sheng, H; Wu, M; Yin, X; Zhou, Z, 2014) |
| "The major cause of PDHc deficiency is a defect in the E1alpha component." | 1.33 | A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. ( Darin, N; De Meirleir, L; Eriksson, JE; Holmberg, E; Holme, E; Lissens, W; Tulinius, M; Wiklund, LM, 2005) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (28.57) | 18.7374 |
| 1990's | 2 (28.57) | 18.2507 |
| 2000's | 1 (14.29) | 29.6817 |
| 2010's | 1 (14.29) | 24.3611 |
| 2020's | 1 (14.29) | 2.80 |
| Authors | Studies |
|---|---|
| Horton, L | 1 |
| Henry, M | 1 |
| Conway, R | 1 |
| Kumar, B | 1 |
| Wu, M | 1 |
| Liu, L | 1 |
| Cai, Y | 1 |
| Sheng, H | 1 |
| Cheng, J | 1 |
| Li, X | 1 |
| Yin, X | 1 |
| Lu, Z | 1 |
| Lin, R | 1 |
| Zhou, Z | 1 |
| Fan, L | 1 |
| Liu, H | 1 |
| Tulinius, M | 1 |
| Darin, N | 1 |
| Wiklund, LM | 1 |
| Holmberg, E | 1 |
| Eriksson, JE | 1 |
| Lissens, W | 2 |
| De Meirleir, L | 2 |
| Holme, E | 1 |
| Bonne, G | 1 |
| Benelli, C | 1 |
| Chaussain, M | 1 |
| Diry, M | 1 |
| Clot, JP | 1 |
| Ponsot, G | 1 |
| Geoffroy, V | 1 |
| Leroux, JP | 1 |
| Artuch, R | 1 |
| Pineda, M | 1 |
| Vilaseca, MA | 1 |
| Briones, P | 1 |
| Ribes, A | 1 |
| Colomer, J | 1 |
| Vernet, A | 1 |
| Campistol, J | 1 |
| Kitano, A | 1 |
| Nishiyama, S | 1 |
| Miike, T | 1 |
| Hattori, S | 1 |
| Ohtani, Y | 1 |
| Matsuda, I | 1 |
| DiMauro, S | 1 |
| Bonilla, E | 1 |
| Zeviani, M | 1 |
| Nakagawa, M | 1 |
| DeVivo, DC | 1 |
1 review available for carnitine and Ataxia with Lactic Acidosis
| Article | Year |
|---|---|
Mitochondrial myopathies.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Cytochromes; DNA, Mitochondrial; Humans; Microscopy, El | 1985 |
6 other studies available for carnitine and Ataxia with Lactic Acidosis
| Article | Year |
|---|---|
An Intriguing Case of Acute Left-Sided Weakness in a 4-Year-Old Boy.
Topics: Baclofen; Carnitine; Child, Preschool; Diagnosis, Differential; Diet, Ketogenic; Humans; Leigh Disea | 2021 |
[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].
Topics: Brain; Carnitine; Child, Preschool; Exons; Humans; Magnetic Resonance Imaging; Male; Mutation; Pheno | 2014 |
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
Topics: Amino Acid Substitution; Brain; Carnitine; Child, Preschool; Exons; Humans; Infant; Lactic Acid; Lei | 2005 |
E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.
Topics: Base Sequence; Carnitine; Child; DNA; DNA Mutational Analysis; Drug Therapy, Combination; Humans; Ly | 1993 |
[Respiratory chain and pyruvate metabolism deficiencies in pediatric patients: evaluation of biochemical tests for selective screening].
Topics: Alanine; Amino Acids; Carnitine; Child; Child, Preschool; Chromatography, Gas; Citric Acid Cycle; DN | 1998 |
Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome.
Topics: Acidosis, Lactic; Carnitine; Electron Transport Complex IV; Fanconi Syndrome; Female; Humans; Infant | 1986 |