The Experts below are selected from a list of 138 Experts worldwide ranked by ideXlab platform
Arnold Munnich - One of the best experts on this subject based on the ideXlab platform.
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the neurogenic weakness ataxia and retinitis pigmentosa NARP Syndrome mtdna mutation t8993g triggers muscle atpase deficiency and hypocitrullinaemia
European Journal of Pediatrics, 1999Co-Authors: B Parfait, P De Lonlay, J C Von Kleistretzow, Valerie Cormierdaire, Dominique Chretien, Agnes Rotig, D Rabier, J M Saudubray, Pierre Rustin, Arnold MunnichAbstract:Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis.
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The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
European Journal of Pediatrics, 1999Co-Authors: B Parfait, P De Lonlay, Dominique Chretien, Agnes Rotig, D Rabier, J M Saudubray, Pierre Rustin, J. C. Von Kleist-retzow, V. Cormier-daire, Arnold MunnichAbstract:Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis. Conclusion We suggest giving consideration to hypocitrullinaemia as a hallmark of the neurogenic weakness, ataxia and retinitis pigmentosa Syndrome mutation and more generally of impaired oxidative phosphorylation in the small intestine in vivo.
B Parfait - One of the best experts on this subject based on the ideXlab platform.
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the neurogenic weakness ataxia and retinitis pigmentosa NARP Syndrome mtdna mutation t8993g triggers muscle atpase deficiency and hypocitrullinaemia
European Journal of Pediatrics, 1999Co-Authors: B Parfait, P De Lonlay, J C Von Kleistretzow, Valerie Cormierdaire, Dominique Chretien, Agnes Rotig, D Rabier, J M Saudubray, Pierre Rustin, Arnold MunnichAbstract:Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis.
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The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
European Journal of Pediatrics, 1999Co-Authors: B Parfait, P De Lonlay, Dominique Chretien, Agnes Rotig, D Rabier, J M Saudubray, Pierre Rustin, J. C. Von Kleist-retzow, V. Cormier-daire, Arnold MunnichAbstract:Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis. Conclusion We suggest giving consideration to hypocitrullinaemia as a hallmark of the neurogenic weakness, ataxia and retinitis pigmentosa Syndrome mutation and more generally of impaired oxidative phosphorylation in the small intestine in vivo.
Agnes Rotig - One of the best experts on this subject based on the ideXlab platform.
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the neurogenic weakness ataxia and retinitis pigmentosa NARP Syndrome mtdna mutation t8993g triggers muscle atpase deficiency and hypocitrullinaemia
European Journal of Pediatrics, 1999Co-Authors: B Parfait, P De Lonlay, J C Von Kleistretzow, Valerie Cormierdaire, Dominique Chretien, Agnes Rotig, D Rabier, J M Saudubray, Pierre Rustin, Arnold MunnichAbstract:Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis.
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The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
European Journal of Pediatrics, 1999Co-Authors: B Parfait, P De Lonlay, Dominique Chretien, Agnes Rotig, D Rabier, J M Saudubray, Pierre Rustin, J. C. Von Kleist-retzow, V. Cormier-daire, Arnold MunnichAbstract:Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis. Conclusion We suggest giving consideration to hypocitrullinaemia as a hallmark of the neurogenic weakness, ataxia and retinitis pigmentosa Syndrome mutation and more generally of impaired oxidative phosphorylation in the small intestine in vivo.
P De Lonlay - One of the best experts on this subject based on the ideXlab platform.
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the neurogenic weakness ataxia and retinitis pigmentosa NARP Syndrome mtdna mutation t8993g triggers muscle atpase deficiency and hypocitrullinaemia
European Journal of Pediatrics, 1999Co-Authors: B Parfait, P De Lonlay, J C Von Kleistretzow, Valerie Cormierdaire, Dominique Chretien, Agnes Rotig, D Rabier, J M Saudubray, Pierre Rustin, Arnold MunnichAbstract:Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis.
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The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
European Journal of Pediatrics, 1999Co-Authors: B Parfait, P De Lonlay, Dominique Chretien, Agnes Rotig, D Rabier, J M Saudubray, Pierre Rustin, J. C. Von Kleist-retzow, V. Cormier-daire, Arnold MunnichAbstract:Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis. Conclusion We suggest giving consideration to hypocitrullinaemia as a hallmark of the neurogenic weakness, ataxia and retinitis pigmentosa Syndrome mutation and more generally of impaired oxidative phosphorylation in the small intestine in vivo.
Pierre Rustin - One of the best experts on this subject based on the ideXlab platform.
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the neurogenic weakness ataxia and retinitis pigmentosa NARP Syndrome mtdna mutation t8993g triggers muscle atpase deficiency and hypocitrullinaemia
European Journal of Pediatrics, 1999Co-Authors: B Parfait, P De Lonlay, J C Von Kleistretzow, Valerie Cormierdaire, Dominique Chretien, Agnes Rotig, D Rabier, J M Saudubray, Pierre Rustin, Arnold MunnichAbstract:Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis.
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The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
European Journal of Pediatrics, 1999Co-Authors: B Parfait, P De Lonlay, Dominique Chretien, Agnes Rotig, D Rabier, J M Saudubray, Pierre Rustin, J. C. Von Kleist-retzow, V. Cormier-daire, Arnold MunnichAbstract:Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) Syndrome mtDNA mutation (T8993G). Since plasma citrulline was consistently low in 4/5 patients, we suggest that the NARP mutation caused complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis. Conclusion We suggest giving consideration to hypocitrullinaemia as a hallmark of the neurogenic weakness, ataxia and retinitis pigmentosa Syndrome mutation and more generally of impaired oxidative phosphorylation in the small intestine in vivo.
