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Okur-Chung neurodevelopmental syndrome in a patient from Spain.
Martinez-Monseny AF, Casas-Alba D, Arjona C, Bolasell M, Casano P, Muchart J, Ramos F, Martorell L, Palau F, García-Alix A, Serrano M. Martinez-Monseny AF, et al. Among authors: muchart j. Am J Med Genet A. 2020 Jan;182(1):20-24. doi: 10.1002/ajmg.a.61405. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729156
[Isolated congenital adenohypophyseal hypoplasia].
León M, Muchart J, García-Alix A. León M, et al. Among authors: muchart j. An Pediatr (Barc). 2012 Mar;76(3):165-6. doi: 10.1016/j.anpedi.2011.03.009. Epub 2011 Sep 22. An Pediatr (Barc). 2012. PMID: 21943506 Free article. Spanish. No abstract available.
[Rhombencephalosynapsis, a rare congenital abnormality easy to diagnose].
Agut T, Muchart J, Delgadillo V, García-Alix A. Agut T, et al. Among authors: muchart j. An Pediatr (Barc). 2014 Dec;81(6):e3-4. doi: 10.1016/j.anpedi.2013.12.017. Epub 2014 Feb 20. An Pediatr (Barc). 2014. PMID: 24560496 Free article. Spanish. No abstract available.
Thiamine transporter-2 deficiency: outcome and treatment monitoring.
Ortigoza-Escobar JD, Serrano M, Molero M, Oyarzabal A, Rebollo M, Muchart J, Artuch R, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Among authors: muchart j. Orphanet J Rare Dis. 2014 Jun 23;9:92. doi: 10.1186/1750-1172-9-92. Orphanet J Rare Dis. 2014. PMID: 24957181 Free PMC article.
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Serrano M, et al. Among authors: muchart j. Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Orphanet J Rare Dis. 2015. PMID: 26502900 Free PMC article.
94 results