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Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy.
Mol Genet Metab. 2013 Sep-Oct;110(1-2):181-3. doi: 10.1016/j.ymgme.2013.06.011. Epub 2013 Jun 21.
Mol Genet Metab. 2013.
PMID: 23835251
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C, Lezana Rosales JM, López Montiel J, Andrés Garrido LD, Sánchez Linares C, Carmona Tamajón S, Torres Fernández C, Sánchez González P, Franco Freire S, Benito López C, López Siles J.
Palma Milla C, et al. Among authors: lopez montiel j.
Ann Hum Genet. 2018 Nov;82(6):425-436. doi: 10.1111/ahg.12272. Epub 2018 Jul 16.
Ann Hum Genet. 2018.
PMID: 30014477
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[Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy].
Carrasco Salas P, Palma Milla C, López Montiel J, Benito C, Franco Freire S, López Siles J.
Carrasco Salas P, et al. Among authors: lopez montiel j.
Med Clin (Barc). 2016 Feb 19;146(4):163-6. doi: 10.1016/j.medcli.2015.10.015. Epub 2015 Dec 10.
Med Clin (Barc). 2016.
PMID: 26683077
Spanish.
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