Pyruvate Carboxylase Deficiency
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1787-1
Reference9 articles.
1. Coci EG et al (2019) Pyruvate carboxylase deficiency type A and type C: characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation. Hum Mutat 40:816–827. https://doi.org/10.1002/humu.23742
2. De Meirleir L (2014) Pyruvate carboxylase and pyruvate dehydrogenase deficiency. In: Blau N, Duran M, Gibson KM, Dionisi Vici C (eds) Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Springer, Berlin/Heidelberg, pp 303–311. https://doi.org/10.1007/978-3-642-40337-8_19
3. García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM (2006) Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. Ann Neurol 59:121–127. https://doi.org/10.1002/ana.20709
4. Hommes FA, Polman HA, Reerink JD (1968) Leigh’s encephalomyelopathy: an inborn error of gluconeogenesis. Arch Dis Child 43:423–426. https://doi.org/10.1136/adc.43.230.423
5. Marin-Valencia I, Roe CR, Pascual JM (2010) Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Mol Genet Metab 101:9–17. https://doi.org/10.1016/j.ymgme.2010.05.004
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