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

Year Number of Results
2011 101
2012 171
2013 154
2014 117
2015 193
2016 164
2017 168
2018 121
2019 111
2020 104
2021 94
2022 95
2023 68
2024 14

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1,121 results

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Page 1
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, Moráis López A, Belanger-Quintana A, Martín-Hernández E, Bellusci M, Cañedo Villaroya E, Chumillas Calzada S, García Silva MT, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruano MLF, Ugarte M, Pérez B, Pedrón-Giner C. Martín-Rivada Á, et al. JIMD Rep. 2022 Jan 27;63(2):146-161. doi: 10.1002/jmd2.12265. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281663 Free PMC article.
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
CORRIGENDUM.
[No authors listed] [No authors listed] JIMD Rep. 2023 Jul 2;64(4):300. doi: 10.1002/jmd2.12376. eCollection 2023 Jul. JIMD Rep. 2023. PMID: 37404679 Free PMC article.
Erratum.
Edmondson AC, Salant J, Ierardi-Curto LA, Ficicioglu C. Edmondson AC, et al. JIMD Rep. 2017;33:109-110. doi: 10.1007/8904_2017_587. JIMD Rep. 2017. PMID: 28409479 Free PMC article. No abstract available.
A stone in the bone.
Halfon M, Cochat P, Kissling S, Dattner N, de Leval L, Fakhouri F, Pruijm M, Bonny O. Halfon M, et al. JIMD Rep. 2021 Oct 8;62(1):6-8. doi: 10.1002/jmd2.12246. eCollection 2021 Nov. JIMD Rep. 2021. PMID: 34765391 Free PMC article.
Intellectual functioning in alpha-mannosidosis.
Cathey SS, Sarasua SM, Simensen R, Pietris K, Kimbrell G, Sillence D, Wilson C, Horowitz L. Cathey SS, et al. JIMD Rep. 2019 Sep 21;50(1):44-49. doi: 10.1002/jmd2.12073. eCollection 2019 Nov. JIMD Rep. 2019. PMID: 31741826 Free PMC article.
Corrigendum.
[No authors listed] [No authors listed] JIMD Rep. 2021 Nov 8;62(1):97. doi: 10.1002/jmd2.12257. eCollection 2021 Nov. JIMD Rep. 2021. PMID: 34765404 Free PMC article.
Visual impairment in mucopolysaccharidosis VI.
Magalhães AM, Moleiro AF, Rodrigues E, Castro S, Fonseca J, Leão-Teles E. Magalhães AM, et al. JIMD Rep. 2023 Jan 19;64(2):129-137. doi: 10.1002/jmd2.12351. eCollection 2023 Mar. JIMD Rep. 2023. PMID: 36873088 Free PMC article.
Suicidal attempt with eliglustat overdose.
Nadler J, Hermanns-Clausen M, Dilger K. Nadler J, et al. JIMD Rep. 2022 Oct 4;64(1):23-26. doi: 10.1002/jmd2.12341. eCollection 2023 Jan. JIMD Rep. 2022. PMID: 36636596 Free PMC article.
ATP6AP1-CDG: Follow-up and female phenotype.
Lipiński P, Rokicki D, Bogdańska A, Lesiak J, Lefeber DJ, Tylki-Szymańska A. Lipiński P, et al. JIMD Rep. 2020 Apr 9;53(1):80-82. doi: 10.1002/jmd2.12104. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395412 Free PMC article.
1,121 results