プロピオニカシデミアにおけるL-カルニチン療法

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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.

Orphanet journal of rare diseases·2015

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Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.

Neurology·2008

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Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.

Molecular genetics and metabolism·2005

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Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.

Journal of inherited metabolic disease·2004

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Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.

Prenatal diagnosis·2001

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Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.

Clinica chimica acta; international journal of clinical chemistry·2001

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Medical compartmentalisation: a patient with chromosome 22q11.2 deletion syndrome in Japan.

Lancet (London, England)·2026

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[<sup>177</sup>Lu]Lu-edotreotide versus everolimus for gastroenteropancreatic neuroendocrine tumours (COMPETE): a phase 3, multicentre, randomised, open-label, superiority trial.

Lancet (London, England)·2026

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Research priorities for characterising Bundibugyo virus.

Lancet (London, England)·2026

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Rethinking treatment sequence in advanced gastroenteropancreatic neuroendocrine tumours.

Lancet (London, England)·2026

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Dual mobility total hip replacement in fractures: stability promotes patient confidence.

Lancet (London, England)·2026

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Dual mobility versus standard cups in total hip replacement for displaced femoral neck fractures (Duality): an international, multicentre, randomised, controlled, superiority trial.

Lancet (London, England)·2026

関連する実験動画

プロピオニカシデミアにおけるL-カルニチン療法

関連する概念動画

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.

Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.

Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.

Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.

Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.

Medical compartmentalisation: a patient with chromosome 22q11.2 deletion syndrome in Japan.

[<sup>177</sup>Lu]Lu-edotreotide versus everolimus for gastroenteropancreatic neuroendocrine tumours (COMPETE): a phase 3, multicentre, randomised, open-label, superiority trial.

Research priorities for characterising Bundibugyo virus.

Rethinking treatment sequence in advanced gastroenteropancreatic neuroendocrine tumours.

Dual mobility total hip replacement in fractures: stability promotes patient confidence.

Dual mobility versus standard cups in total hip replacement for displaced femoral neck fractures (Duality): an international, multicentre, randomised, controlled, superiority trial.

関連する実験動画

プロピオニカシデミアにおけるL-カルニチン療法

関連する概念動画

関連記事

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.

Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.

Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.

Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.

Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.

Medical compartmentalisation: a patient with chromosome 22q11.2 deletion syndrome in Japan.

[<sup>177</sup>Lu]Lu-edotreotide versus everolimus for gastroenteropancreatic neuroendocrine tumours (COMPETE): a phase 3, multicentre, randomised, open-label, superiority trial.

Research priorities for characterising Bundibugyo virus.

Rethinking treatment sequence in advanced gastroenteropancreatic neuroendocrine tumours.

Dual mobility total hip replacement in fractures: stability promotes patient confidence.

Dual mobility versus standard cups in total hip replacement for displaced femoral neck fractures (Duality): an international, multicentre, randomised, controlled, superiority trial.