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Molecular Genetics and Metabolism cover

Molecular Genetics and Metabolism

IF3.5
Papers10664
Citations8348
Journal Papers 13766
Publication Date
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Hyperinflammatory syndromes in primary mitochondrial disease: A three-center case series and focused review
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-26
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PREAI
deleteDan R. Brooks; Eliza Gordon-Lipkin; Ibrahim Elsharkawi; Shannon Kruk; Madeleine Hesselgesser; Christine Eng; Weimin Bi; Lisa Emrick; Kristen S. Fisher; Peter J. McGuire; Fernando Scaglia
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Muscle ATP homeostasis and exercise: insights from ADSS1 myopathy
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-25
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PREAI
deleteDavid Reiter; Gamze Kilic-Berkmen; Saketh Gudimetla; Ellen J. Hess; H.A. Jinnah
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CRISPR screening in neurodegeneration and lysosomal biology: Uncovering disease mechanisms and genetic modifiers
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-24
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PREAI
deleteHamid Esmaeili; Supta Das; Krystyna Rytel; Ellen Sidransky; Yu Chen
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Predicted deficiency of the GTP cyclohydrolase I feedback regulatory protein (GFRP): a disorder of dynamic tetrahydrobiopterin homeostasis
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-24
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PREAI
deleteNenad Blau
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Single-center real-world experience with givosiran for management of acute intermittent porphyria
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-24
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PREAI
deleteChanan Stauffer; Luca Fierro; Rachel Evard; Manisha Balwani
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C-type lectin 10A [CD301] mRNA is upregulated in symptomatic acute intermittent porphyria and decreases after heme treatment
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-18
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PREAI
deleteElin Storjord; Karl E. Anderson; Herbert L. Bonkovsky; Abhishek Murti; Geir Tollåli; Akshata Moghe; Bruce Wang; Åse Emblem; Ole-Lars Brekke; Bård Ove Karlsen
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FGF21 elevation is a biomarker of citrin deficiency and its metabolic dysregulation in pediatric patients
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-18
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PREAI
deleteJiaqi Liang; Vanessa Chu; Emily Che; Anne Kwok; Kiran Belaramani; Helen Wu; Terry Law; Yvonne Kwok; Carmen Yeung; Chloe Mak; Sheila Wong; Shirley Lam; Fion Yu; Ho-Ming Luk; Nike Lau; Felix Wong; Charles Brenner; Cheuk-Wing Fung
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Corrigendum to “Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina” [Mol. Genet. Med. 149 (1–2) (2026) 110252]
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-16
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PREAI
deleteMolly M. Crenshaw; Erica B. Nading; Jamie Mills; Erin Huggins; Natalie Krohl; Deeksha Bali; Sarah P. Young; Ashlee R. Stiles; Kimberly Blake; Lara Percenti; Dee Pettit; Sam Freeman; Scott Shone; Edwin C. Ferren; Katherine J. Dempsey; Kayleigh Bright; Catherine Rehder; Priya S. Kishnani; Jennifer L. Cohen
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Phosphodiesterase-5 inhibition as an off-label therapy in mitochondrial disease
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-16
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PREAI
deleteIbrahim Elsharkawi; Graeme Preston; Tamas Kozicz; Eva Morava
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A brief history of gene therapy for ornithine transcarbamylase deficiency
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-06
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PREAI
deleteMargo Sheck Breilyn; Laura L. Konczal; Cary O. Harding
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Tividenofusp alfa-eknm (Avlayah) for the treatment of MPS II: FDA approval summary
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-03
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deleteMehul Desai; Kathryn Hartka
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Drug repurposing of glycerol phenylbutyrate for children with SLC6A1-related neurodevelopmental disorder: A prospective open-label case series
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-02
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deleteOAAI
deleteE.S. van Walree; D.Z. Dekker; J.J. Sprengers; I. Boussaad; M.M. van Muilekom; M.J. Smits; M.A. Alders; M.M. van Haelst; A. Altinbas; W.B. Gunning; C.A. Haaxma; J.P.M. van der Vegt; J.S. Verhoeven; Z.M. Grinspan; J.H. Schieving; A.R. Müller; C.D. van Karnebeek
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Current management of biotinidase deficiency following newborn screening in Italy: evidence from a clinical nationwide survey
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-09-01
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deleteTagliaferri, Francesco; Candela, Egidio; Biasucci, Giacomo; Bonati, Maria Teresa; Bordugo, Andrea; Concolino, Daniela; Crescitelli, Viola; Daniotti, Marta; De Giovanni, Donatella; Di Fiore, Antonella; Di Michele, Silvia; Dituri, Francesco; Fiori, Laura; Gragnaniello, Vincenza; Guzzetti, Chiara; La Rosa, Alessandro; La Spina, Luisa; Martinelli, Diego; Nardecchia, Francesca; Porta, Francesco; Rossi, Alessandro; Rubert, Laura; Santoro, Lucia; Schiaffino, Maria Cristina; Menni, Francesca
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Attitudes of people with lived experience of hypophosphatasia (HPP) toward in-utero enzyme replacement therapy (IU-ERT) for life-threatening HPP
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-08-31
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PREAI
deleteTanvi Kaushal; Angela Krutish; Rebekah Kukurudz-Gorowski; Emily Barker; Deborah Fowler; Jennifer Paulson Brand; Denise Goodbar; Cheryl Rockman-Greenberg
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Plasma and urinary NMR metabolic profiling of the phenylalanine-tyrosine pathway in nitisinone-treated alkaptonuria: comparison of two dosing regimens and identification of a candidate pharmacodynamic biomarker
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-08-28
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deleteDaniela Grasso; Valentina Balloni; Elena Bianchi; Andrea Mazzon; Marco Bardelli; Gabriella Iacomelli; Luana Peruzzi; Bruno Frediani; Annalisa Santucci; Andrea Bernini
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A novel pretreatment of dried blood spot filter paper to improve the preservation of amino acids: a technology to increase access and care
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-08-28
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deleteKirkland A. Wilson; Yun Zhou; Gary Cunningham; Matthew S. Bramble; Sahana Kumar; Kojo Danso; Braelynn Tomanio; Kimberly Chapman; Marshall Summar; Hilaire Musasa Hanshi-Hatuhu; Desire Tshala-Katumbay; Dieudonne Mumba-Ngoyi; Debra S. Regier
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Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-08-28
delete0
PREAI
deleteMolly M. Crenshaw; Erica B. Nading; Jamie Mills; Erin Huggins; Natalie Krohl; Deeksha Bali; Sarah P. Young; Ashlee R. Stiles; Kimberly Blake; Lara Percenti; Dee Pettit; Sam Freeman; Scott Shone; Edwin C. Ferren; Katherine J. Dempsey; Kayleigh Bright; Catherine Rehder; Priya S. Kishnani; Jennifer L. Cohen
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Metabolic alterations associated with immune dysfunction in lysinuric protein intolerance
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-08-27
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PREAI
deleteBetul Gemici Karaaslan; Ayse Cigdem Aktuglu Zeybek; Nihan Burtecene; Meltem Gokden; Esra Isat; Mehmet Serif Cansever; Haluk Cokuğras; Duhan Hopurcuoglu; Gökçe Nurdan Cengiz; Birol Topcu; Esra Yucel; Tanyel Zubarioğlu; Ertugrul Kiykim; Ayca Kiykim
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Prescribing patterns of vitamin and cofactor therapies in genetically confirmed primary mitochondrial diseases
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-08-27
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PREAI
deleteMerve Setenay Akyüzlüer Güneş; Merve Koç Yekedüz; Engin Köse; İlknur Sürücü Kara; Fatma Tuba Eminoğlu
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Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-08-26
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PREAI
deleteShelly Goomber; Erin Huggins; Catherine W. Rehder; Gregory E. Crawford; Seung-Hye Jung; Jessica Doxey; Apoorva K. Iyengar; Erica B. Nading; Priya S. Kishnani; Deeksha S. Bali
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