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/vufind/Search/Results?lookfor=%22Mitochondrial+disease%22&type=Subject&page=9
/vufind/Search/Results?lookfor=%22Mitochondrial+disease%22&type=Subject&page=9
Search /vufind/Search2/Results?lookfor=%22Mitochondrial+disease%22&type=Subject&page=9
PubPharm (3.091)
81
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
in:
BMC Neurology
| 2024
von
Ameya S. Walimbe
|
Keren Machol
|
Stephen F. Kralik
| +7
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82
Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21
in:
Balkan Journal of Medical Genetics
| 2024
von
Paripović A
|
Maver A
|
Stajić N
| +5
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83
Therapeutic outcome of patients with Lennox–Gastaut syndrome with mitochondrial respiratory chain complex I deficiency
in:
Frontiers in Neurology
| 2024
von
Ji-Hoon Na
|
Young-Mock Lee
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84
Chronic kidney disease in TARS2-related mitochondrial disease – A case report
in:
Global Pediatrics
| 2024
von
Aleksandra Paripović
|
Nataša Stajić
|
Jovana Putnik
| +3
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85
Human mtDNA-Encoded Long ncRNAs: Knotty Molecules and Complex Functions
in:
International Journal of Molecular Sciences
| 2024
von
Francesco Bruni
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86
Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics
in:
Journal of Mass Spectrometry and Advances in the Clinical Lab
| 2024
von
Robin H.J. Kemperman
|
Rebecca D. Ganetzky
|
Stephen R. Master
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87
A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing
in:
Heliyon
| 2024
von
Yanjun Wang
|
Juan He
|
Fangling Dong
| +7
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88
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review
in:
Frontiers in Genetics
| 2024
von
Umamaheswaran Gurusamy
|
Swetha Ramadesikan
|
Mohammad Marhabaie
| +17
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89
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
in:
Frontiers in Genetics
| 2024
von
Ismail Gouiza
|
Ismail Gouiza
|
Ismail Gouiza
| +27
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90
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
in:
Genetics in Medicine Open
| 2024
von
Teresa Campbell
|
Jesse Slone
|
Hallie Metzger
| +13
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