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2025
Mark Qualitative study of fatigue in adults with primary mitochondrial disease : Development of the PROMIS Fatigue Mitochondrial Disease Short Form
Clifford, Sarah ; Stefanetti, Renae J. ; Bahar, Roxana ; Hansson, Magnus J. ^LU ; Gorman, Gráinne S. and Karaa, Amel (2025) In Molecular Genetics and Metabolism 145(4).
- Contribution to journal › Article
2024
Mark ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines
Shah, Rameen ; Eklund, Erik A. ^LU ; Radenkovic, Silvia ; Sadek, Mustafa ; Shammas, Ibrahim ; Verberkmoes, Sanne ; Ng, Bobby G. ; Freeze, Hudson H. ; Edmondson, Andrew C. and He, Miao , et al. (2024) In Molecular Genetics and Metabolism 142(2).
- Contribution to journal › Scientific review
Mark Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Lam, Christina ; Eklund, E.A. ^LU and Morava, E. (2024) In Molecular Genetics and Metabolism 142(4).
- Contribution to journal › Article
Mark Coagulation abnormalities and vascular complications are common in PGM1-CDG
Radenkovic, Silvia ; Bleukx, Sofie ; Engelhardt, Nicole ; Eklund, Erik ^LU ; Mercimek-Andrews, Saadet ; Edmondson, Andrew C. and Morava, Eva (2024) In Molecular Genetics and Metabolism 142(4).
- Contribution to journal › Article
2023
Mark Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation
Eklund, Erik A. ^LU ; Miller, Bradley S. and Boucher, Alexander A. (2023) In Molecular Genetics and Metabolism 138(4).
- Contribution to journal › Article
2022
Mark Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
Elander, Johanna ^LU ; McCormick, Elizabeth M ; Värendh, Maria ^LU ; Stenfeldt, Karin ^LU ; Ganetzky, Rebecca D ; Goldstein, Amy ; Zolkipli-Cunningham, Zarazuela ; MacMullen, Laura E ; Xiao, Rui and Falk, Marni J , et al. (2022) In Molecular Genetics and Metabolism 137(3). p.230-238
- Contribution to journal › Article
2017
Mark Hospitalizations for mitochondrial disease across the lifespan in the U.S
McCormack, Shana E. ; Xiao, Rui ; Kilbaugh, Todd J ; Karlsson, Michael ^LU ; Ganetzky, Rebecca D. ; Cunningham, Zarazuela Zolkipli ; Goldstein, Amy ; Falk, Marni J. and Damrauer, Scott M. (2017) In Molecular Genetics and Metabolism 121(2). p.119-126
- Contribution to journal › Article
Mark Roscoe Owen Brady, MD : Remembrances of co-investigators and colleagues
Desnick, Robert J. ; Barton, Norman W. ; Furbish, Scott ; Grabowski, Gregory A. ; Karlsson, Stefan ^LU ; Kolodny, Edwin H. ; Medin, Jeffrey A. ; Murray, Gary J. ; Mistry, Pramod K. and Patterson, Marc C. , et al. (2017) In Molecular Genetics and Metabolism 120(1-2). p.1-7
- Contribution to journal › Article
2011
Mark A common variant near the PRL gene is associated with increased adiposity in males
Nilsson, Louise ; Olsson, Anders H ^LU ; Isomaa, Bo ; Groop, Leif ^LU ; Billig, Hakan and Ling, Charlotte ^LU (2011) In Molecular Genetics and Metabolism 102(1). p.78-81
- Contribution to journal › Article
Mark The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes.
Olsson, Anders H ^LU ; Rönn, Tina ^LU ; Elgzyri, Tarq ^LU ; Hansson, Ola ^LU ; Eriksson, Karl-Fredrik ^LU ; Groop, Leif ^LU ; Vaag, Allan ^LU ; Poulsen, Pernille and Ling, Charlotte ^LU (2011) In Molecular Genetics and Metabolism 103. p.275-281
- Contribution to journal › Article

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