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JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without...
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| Zeitschriftentitel: | JIMD Reports |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , |
| In: | JIMD Reports, 2014, S. 59-66 |
| Format: | E-Book-Kapitel |
| Sprache: | Unbestimmt |
| veröffentlicht: |
Springer Berlin Heidelberg
|
| author_facet |
Bhoj, E. J. Li, M. Ahrens-Nicklas, R. Pyle, L. C. Wang, J. Zhang, V. W. Clarke, C. Wong, L. J. Sondheimer, N. Ficicioglu, C. Yudkoff, M. Bhoj, E. J. Li, M. Ahrens-Nicklas, R. Pyle, L. C. Wang, J. Zhang, V. W. Clarke, C. Wong, L. J. Sondheimer, N. Ficicioglu, C. Yudkoff, M. |
|---|---|
| author |
Bhoj, E. J. Li, M. Ahrens-Nicklas, R. Pyle, L. C. Wang, J. Zhang, V. W. Clarke, C. Wong, L. J. Sondheimer, N. Ficicioglu, C. Yudkoff, M. |
| spellingShingle |
Bhoj, E. J. Li, M. Ahrens-Nicklas, R. Pyle, L. C. Wang, J. Zhang, V. W. Clarke, C. Wong, L. J. Sondheimer, N. Ficicioglu, C. Yudkoff, M. JIMD Reports JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| author_sort |
bhoj, e. j. |
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Bhoj, E. J. Li, M. Ahrens-Nicklas, R. Pyle, L. C. Wang, J. Zhang, V. W. Clarke, C. Wong, L. J. Sondheimer, N. Ficicioglu, C. Yudkoff, M. 2192-8304 2192-8312 Springer Berlin Heidelberg http://dx.doi.org/10.1007/8904_2014_364 JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis JIMD Reports |
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10.1007/8904_2014_364 |
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| title |
JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_unstemmed |
JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_full |
JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_fullStr |
JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_full_unstemmed |
JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_short |
JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_sort |
jimd reports: pathologic variants of the mitochondrial phosphate carrier slc25a3: two new patients and expansion of the cardiomyopathy/skeletal myopathy phenotype with and without lactic acidosis |
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http://dx.doi.org/10.1007/8904_2014_364 |
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| author | Bhoj, E. J., Li, M., Ahrens-Nicklas, R., Pyle, L. C., Wang, J., Zhang, V. W., Clarke, C., Wong, L. J., Sondheimer, N., Ficicioglu, C., Yudkoff, M. |
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| author_sort | bhoj, e. j. |
| container_start_page | 59 |
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| spelling | Bhoj, E. J. Li, M. Ahrens-Nicklas, R. Pyle, L. C. Wang, J. Zhang, V. W. Clarke, C. Wong, L. J. Sondheimer, N. Ficicioglu, C. Yudkoff, M. 2192-8304 2192-8312 Springer Berlin Heidelberg http://dx.doi.org/10.1007/8904_2014_364 JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis JIMD Reports |
| spellingShingle | Bhoj, E. J., Li, M., Ahrens-Nicklas, R., Pyle, L. C., Wang, J., Zhang, V. W., Clarke, C., Wong, L. J., Sondheimer, N., Ficicioglu, C., Yudkoff, M., JIMD Reports, JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title | JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_full | JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_fullStr | JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_full_unstemmed | JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_short | JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| title_sort | jimd reports: pathologic variants of the mitochondrial phosphate carrier slc25a3: two new patients and expansion of the cardiomyopathy/skeletal myopathy phenotype with and without lactic acidosis |
| title_unstemmed | JIMD Reports: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis |
| url | http://dx.doi.org/10.1007/8904_2014_364 |