JIMD Reports container_zduery7uxzf7dhvsbdrolxer4a

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 | 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 | JIMD Reports
doi:10.1002/jmd2.12276   pmcid:PMC8995838  

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 | 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 | 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
Release Types
chapter 807
article-journal 326
book 45
unknown-type 6
ISSN-L?  2192-8304
    Print:  2192-8304
    Electronic:  2192-8312
Wikidata  Q27724122
Directory Listings
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