JIMD Reports, Volume 19

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Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosi... von 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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Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia von Brecht, Marcus, Richardson, Malcolm, Taranath, Ajay, Grist, Scott, Thorburn, David, Bratkovic, Drago

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A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly von Lee, Jun Hwa, van Kuilenburg, André B. P., Abeling, N. G. G. M., Vasta, Valeria, Hahn, Si Houn

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Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature von Maines, Evelina, Morandi, Grazia, Olivieri, Francesca, Camilot, Marta, Cavarzere, Paolo, Gaudino, Rossella, Antoniazzi, Franco, Bordugo, Andrea

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Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India von Bijarnia-Mahay, Sunita, Movva, Sireesha, Gupta, Neerja, Sharma, Deepak, Puri, Ratna D., Kotecha, Udhaya, Saxena, Renu, Kabra, Madhulika, Mohan, Neelam, Verma, Ishwar C

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Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature von Evelina, Maines, Grazia, Morandi, Francesca, Olivieri, Marta, Camilot, Paolo, Cavarzere, Rossella, Gaudino, Franco, Antoniazzi, Andrea, Bordugo

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Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease von Flanagan, Theresa B., Sutton, Jill A., Brown, Laurie M., Weinstein, David A., Merlo, Lisa J.

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NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers von Fuenzalida, Karen, Leal-Witt, Maria Jesus, Guerrero, Patricio, Hamilton, Valerie, Salazar, Maria Florencia, Penaloza, Felipe, Arias, Carolina, Cornejo, Veronica

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