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JIMD Reports
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Wiley (John Wiley & Sons)
Homepage URLs
https://www.springer.com/series/8904 |
https://onlinelibrary.wiley.com/journal/21928312 |
Example Publications
Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?
Magdalena Kaczor, Milena, Karolina Kierus, Ewa Ehmke vel Emczynska-Seliga, Elzbieta Ciara, Barbara Piatosa, Dariusz Rokicki, Janusz Ksiazyk, Dorota Wesol-Kucharska
2022
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JIMD Reports
doi:10.1002/jmd2.12278 pmcid:PMC8995836
Novel mutations in the <scp> <i>HADHB</i> </scp> gene causing a mild phenotype of mitochondrial trifunctional protein ( <scp>MTP</scp> ) deficiency
Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, Paul Hoff Backe, Trine Tangeraas, Magnhild Rasmussen, Erle Kristensen, Marijke Van Ghelue, Christoffer Jonsrud, Yngve Thomas Bliksrud
2022
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JIMD Reports
doi:10.1002/jmd2.12276 pmcid:PMC8995838
A novel variant of fructose‐1,6‐bisphosphatase gene identified in an adult with newly diagnosed hepatitis C
Helena Fawdry, Rebecca Gorrigan, Radha Ramachandran, William M. Drake
2022
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JIMD Reports
doi:10.1002/jmd2.12256 pmcid:PMC8898736
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders
Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney
2022
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JIMD Reports
doi:10.1002/jmd2.12274 pmcid:PMC8898712
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative <scp>NMR</scp> ‐based urinary metabolomics
Lucia Laugwitz, Laimdota Zizmare, Vidiyaah Santhanakumaran, Claire Cannet, Judith Böhringer, Jürgen G. Okun, Manfred Spraul, Ingeborg Krägeloh‐Mann, Samuel Groeschel, Christoph Trautwein
2022
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JIMD Reports
doi:10.1002/jmd2.12273 pmcid:PMC8898726
1,184
Known Releases
Open Access Publication
Preservation Summary [more]
| 727 | preserved and accessble (bright) | |
| 347 | preserved, inaccessible (dark) | |
| 110 | no known preservation |
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