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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3.
Clin Genet. 2019.
PMID: 30653653
[Schinzel-Giedion syndrome: a new mutation in SETBP1].
López-González V, Domingo-Jiménez MR, Burglen L, Ballesta-Martínez MJ, Whalen S, Piñero-Fernández JA, Guillén-Navarro E.
López-González V, et al. Among authors: domingo jimenez mr.
An Pediatr (Barc). 2015 Jan;82(1):e12-6. doi: 10.1016/j.anpedi.2014.06.017. Epub 2014 Jul 28.
An Pediatr (Barc). 2015.
PMID: 25082129
Free article.
Spanish.
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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.
Guillén-Navarro E, Domingo-Jiménez MR, Alcalde-Martín C, Cancho-Candela R, Couce ML, Galán-Gómez E, Alonso-Luengo O.
Guillén-Navarro E, et al. Among authors: domingo jimenez mr.
Orphanet J Rare Dis. 2013 Jun 25;8:92. doi: 10.1186/1750-1172-8-92.
Orphanet J Rare Dis. 2013.
PMID: 23800320
Free PMC article.
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COVID-19 in children with neuromuscular disorders.
Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento A; Neuromuscular Working Group of Spanish Pediatric Neurology Society.
Natera-de Benito D, et al.
J Neurol. 2021 Sep;268(9):3081-3085. doi: 10.1007/s00415-020-10339-y. Epub 2021 Jan 2.
J Neurol. 2021.
PMID: 33387010
Free PMC article.
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