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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
2005 1
2006 1
2007 2
2008 4
2009 5
2010 4
2011 5
2012 2
2013 2
2014 2
2015 1
2016 6
2017 8
2018 1
2019 3
2020 4
2021 3
2022 6
2024 0

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46 results

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Page 1
Postauthorization safety study of betaine anhydrous.
Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Petković Ramadža D, Baumgartner MR, Cano A, García Jiménez MC, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla Olivas S, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V, Kölker S. Mütze U, et al. Among authors: garcia jimenez mc. J Inherit Metab Dis. 2022 Jul;45(4):719-733. doi: 10.1002/jimd.12499. Epub 2022 Apr 6. J Inherit Metab Dis. 2022. PMID: 35358327 Free article.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB. Grünert SC, et al. Among authors: garcia jimenez mc. Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3. Genet Med. 2022. PMID: 35503103 Free article.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Kuseyri Hübschmann O, Juliá-Palacios NA, Olivella M, Guder P, Zafeiriou DI, Horvath G, Kulhánek J, Pearson TS, Kuster A, Cortès-Saladelafont E, Ibáñez S, García-Jiménez MC, Honzík T, Santer R, Jeltsch K, Garbade SF, Hoffmann GF, Opladen T, García-Cazorla Á. Kuseyri Hübschmann O, et al. Among authors: garcia jimenez mc. Ann Neurol. 2022 Aug;92(2):292-303. doi: 10.1002/ana.26423. Epub 2022 Jun 16. Ann Neurol. 2022. PMID: 35616651
Acute cerebellitis in paediatric patients: Our experience.
García-Iñiguez JP, López-Pisón FJ, Madurga Revilla P, Montejo Gañán I, Domínguez Cajal M, Monge Galindo L, Sánchez Marco SB, García Jiménez MC. García-Iñiguez JP, et al. Among authors: garcia jimenez mc. Neurologia (Engl Ed). 2019 Jun;34(5):291-299. doi: 10.1016/j.nrl.2017.01.006. Epub 2017 Mar 18. Neurologia (Engl Ed). 2019. PMID: 28318729 Free article. English, Spanish.
Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.
Hernández-Ainsa C, López-Gallardo E, García-Jiménez MC, Climent-Alcalá FJ, Rodríguez-Vigil C, García Fernández de Villalta M, Artuch R, Montoya J, Ruiz-Pesini E, Emperador S. Hernández-Ainsa C, et al. Among authors: garcia jimenez mc. Dis Model Mech. 2022 Mar 1;15(3):dmm049083. doi: 10.1242/dmm.049083. Epub 2022 Mar 1. Dis Model Mech. 2022. PMID: 35191981 Free PMC article.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla S, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de Los Santos M, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M, Bellusci M. Martín-Hernández E, et al. Among authors: garcia jimenez mc. J Clin Med. 2022 Aug 28;11(17):5045. doi: 10.3390/jcm11175045. J Clin Med. 2022. PMID: 36078975 Free PMC article.
[Early infantile epileptic encephalopathy due to ITPA mutation].
Alcón-Grases M, Ferrer-Aliaga N, Salinas-Salvador B, Pérez-Delgado R, Castejón-Ponce E, García-Jiménez MC, Izquierdo-Álvarez S, López-Pisón J. Alcón-Grases M, et al. Among authors: garcia jimenez mc. Rev Neurol. 2020 Sep 1;71(5):197-198. doi: 10.33588/rn.7105.2020239. Rev Neurol. 2020. PMID: 32729112 Free article. Spanish.
A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.
González-Tarancón R, Salvador-Rupérez E, Miramar Gallart MD, Barroso E, Díez García-Prieto I, Pérez Delgado R, López Pisón J, García Jiménez MC. González-Tarancón R, et al. Among authors: garcia jimenez mc. Acta Clin Belg. 2022 Feb;77(1):118-121. doi: 10.1080/17843286.2020.1780391. Epub 2020 Jun 16. Acta Clin Belg. 2022. PMID: 32543299
Transition from paediatric care to adult care for patients with mucopolysaccharidosis.
Couce ML, Del Toro M, García-Jiménez MC, Gutierrez-Solana L, Hermida-Ameijeiras Á, López-Rodríguez M, Pérez-López J, Torralba MÁ. Couce ML, et al. Among authors: garcia jimenez mc. Rev Clin Esp (Barc). 2018 Jan-Feb;218(1):17-21. doi: 10.1016/j.rce.2017.06.005. Epub 2017 Jul 18. Rev Clin Esp (Barc). 2018. PMID: 28732796 English, Spanish.
Phenotype in patients with intellectual disability and pathological results in array CGH.
Caballero Pérez V, López Pisón FJ, Miramar Gallart MD, González Álvarez A, García Jiménez MC, García Iñiguez JP, Orden Rueda C, Gil Hernández I, Fuertes Rodrigo C, Fernando Martínez R, Rodríguez Valle A, Alcaine Villarroya MJ. Caballero Pérez V, et al. Among authors: garcia jimenez mc. Neurologia. 2017 Nov-Dec;32(9):568-578. doi: 10.1016/j.nrl.2016.03.006. Epub 2016 May 6. Neurologia. 2017. PMID: 27157524 Free article. English, Spanish.
46 results