1
Back
Molecular Genetics and Metabolism cover

Molecular Genetics and Metabolism

IF3.5
Papers10614
Citations8348
Journal Papers 13716
Publication Date
delete
High dietary fat causes muscle structural breakdown, mitochondrial dysfunction, and contractile deficits in the absence of carnitine palmitoyltransferase 2
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-22
delete0
PREAI
deleteAndrea S. Pereyra; Filip Jevtovic; Adam J. Amorese; Chien-Te Lin; P. Darrell Neufer; Espen E. Spangenburg; Jessica M. Ellis
deleteShare
deleteSave
Ketogenic diet therapy in pyruvate dehydrogenase deficiency: Global clinical practice from literature and survey data
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-18
delete0
deleteOAAI
deleteSarianne Madsen; Brooke Allender; Robyn Blackford; Tessa Bollard; Annabel Comerford; Meredith L. Johnson; Rachel Sinha; Lisa Vanatta; Victoria J. Whiteley; Natasha E. Schoeler
deleteShare
deleteSave
Driving treatment for females with X-linked adrenoleukodystrophy
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-17
delete0
PREAI
deleteKathleen M. Zackowski; Gerald V. Raymond G; Ali Fatemi; Jennifer L. Keller
deleteShare
deleteSave
Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-17
delete0
PREAI
deleteVincent Lavoie; Samia Pichard; Juliette Bouchereau; Lucie Griffon; Sonia Khirani; Meryl Vedrenne-Cloquet; Manuel Schiff; Anaïs Brassier; Brigitte Fauroux
deleteShare
deleteSave
Neuroradiological patterns and prognostic implications in type I Alexander disease
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-15
delete0
deleteOAAI
deleteYlenia Vaia; Filippo Arrigoni; Liat Ben Sira; Geneviève Bernard; Enrico Bertini; Odile Boespflug-Tanguy; Fabio Bruschi; Cristina Cereda; Florian Eichler; Alessandra Erbetta; Simona Ferraro; Morteza Heidari; Luca Lalli; Gabrielle Lambert; Stephanie Libzon; Daniela Longo; Isabella Moroni; Amanda Nagy; Francesco Nicita; Florence Renaldo
deleteShare
deleteSave
Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: Functional characterization of a novel ADSL variant and exploratory treatment with disulfiram
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-15
delete0
PREAI
deleteRužica Kravljanac; Marie Zikanova; Iva Milačić; Biljana Vučetić Tadić; Sofija Popović; Vladimir Oparnica; Vaclava Skopova; Alena Forejtova; Veronika Baresova
deleteShare
deleteSave
Zoledronic acid ameliorates multiple organ pathologies in a murine model of mucolipidosis II by partially restoring mannose-6-phosphate-mediated lysosomal hydrolase activities
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-15
delete0
PREAI
deleteHuan Liang; Yingjun Liang; Xia Zhan; Yuanzhou Chen; Mengni Yi; Huiwen Zhang
deleteShare
deleteSave
Liver MR elastography in Gaucher disease: Longitudinal association with disease severity
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-12
delete0
PREAI
deleteSuraj D. Serai; Éliane Beauregard-Lacroix; Erica Riedesel; Wondwossen T. Lerebo; Can Ficicioglu
deleteShare
deleteSave
High prevalence of GAA c.[752C > T;761C > T] haplotype complicates high-risk screening for Pompe disease in the Chinese population
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-10
delete0
PREAI
deleteKexin Jiao; Yang Wang; Jueru Zhou; Bochen Zhu; Yiqi Wang; Qi Niu; Shanshan Mao; Yan Chen; Jialong Zhang; Xini Ma; Xinyu Chen; Chongbo Zhao; Shiwei Yang; Shaohua Tang; Wenhua Zhu
deleteShare
deleteSave
Corrigendum to “Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity” [Mol. Genet. Metab. 148(2) (2026) 109906]
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-08
delete0
deleteOAAI
deleteAndré B.P. van Kuilenburg; Hanna Mandel; Tameemi Abdalla Moady; Ronen Sloma; Ayalla Fedida; René Leen; Judith Jansen-Meijer; Tamar Paperna; Vered Fleisher Sheffer; Doreen Dobritzsch; Ori Hochwald; Nicole N. van der Wel; Anita E. Grootemaat; Semyon Chulsky; Mika S. Rootman; Ayelet Eran; Maha A. Yousef; April Dinwiddie; Joshua Manor; Clara D.M. van Karnebeek
deleteShare
deleteSave
Toward personalized treatment in phenylketonuria: Intra-individual variation of in vivo phenylalanine oxidation using the 13C-phenylalanine breath test
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-08
delete0
deleteOAAI
deleteS. Haitjema; E.M. van Steenis; R.A.F. Evers; T. Boer; C.M.A. Lubout; F.J. van Spronsen; M.R. Heiner-Fokkema
deleteShare
deleteSave
Accessibility and harmonization of biochemical tests for diagnosis and monitoring of Porphyrias in the United States: Recommendations by members of the American Porphyrias Expert Collaborative (APEX)
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-07
delete0
PREAI
deleteKarl E. Anderson; Robert J. Desnick; Herbert L. Bonkovsky; Manisha Balwani; Sean Barnes; Simon W. Beaven; Amy K. Yeung; Angelica L. Erwin; Mary Freeman; Ruksana Huda; Mohamed Kazamel; Rebecca K. Leaf; Siobán B. Keel; Cynthia Levy; Marshall Mazepa; Brendan McGuire; Akshata Moghe; Hetanshi Naik; Charles J. Parker; John D. Phillips
deleteShare
deleteSave
Molecular heterogeneity in AADC deficiency: Variant-dependent effects on AADC activity
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-06
delete0
PREAI
deleteKlaudia Ślusarczyk; Julia Zuzanna Kamińska; Natalia Głogowska; Giovanni Bisello; Jarosław Poznański; Katarzyna Kuśmierska; Jolanta Sykut-Cegielska; Krystyna Szymańska; Mariarita Bertoldi; Jakub Drożak; Agnieszka Magdalena Rygiel
deleteShare
deleteSave
fNIRS insights into brain biomarkers of maple syrup urine disease (MSUD)
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-05
delete0
PREAI
deleteKosar Khaksari; Karis Tucker; Chad Blackshear; Wei-Liang Chen; Sasha Santiago; Karen Dolins; Andrea Gropman
deleteShare
deleteSave
Analysis of clinical pedigree characteristics in Chinese patients with ataxia with vitamin E deficiency
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-03
delete0
PREAI
deletePu Lv; Lu Liu; Ying Hao; Zhi Zhou; Xin Chen; Linwei Zhang
deleteShare
deleteSave
Prevalence and clinical impact of gastrointestinal symptoms in patients with cystinosis
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-01
delete0
PREAI
deleteA. de Vreugd; M.L. van Campen; E.A.M. Cornelissen; M.T.P. Besouw; L.P.W.J. van den Heuvel; M.C.H. Janssen; E.N. Levtchenko
deleteShare
deleteSave
Metabolic alterations in Snyder Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatment
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-06-01
delete0
PREAI
deleteXianzun Tao; Bridgette Allen; Ethan Wilson; Jillian Spencer; Joy Norris; Elizabeth Van Sickle; Jennifer Benjock; Zoe Vickery; Chin-Fu Chen; Cindy Skinner; Charles E. Schwartz; R. Grace Zhai; Luigi Boccuto
deleteShare
deleteSave
Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-05-29
delete0
deleteOAAI
deleteErika R. Vucko; Katie Arduini; Karen Becker; Anne Kozek; Brooke Kurkjian; Gabrielle McGrath; Aurora Meza; Sarah Schirmacher; Soo Shim; Madison Smith; Carlos E. Prada; Barbara K. Burton
deleteShare
deleteSave
The RAINBOW study: a phase 2 trial evaluating the 3-month pharmacokinetic and pharmacodynamic data and 18-month clinical and safety outcomes of nizubaglustat in GM2 gangliosidosis or Niemann–pick type C disease
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-05-26
delete0
deleteOAAI
deleteLaura López de Frutos; Daniel Almeida do Valle; Dafne D.G. Horovitz; Mariana Horn Scherer; Tamires Silva Alves; Michelle Zeny; Roberta Tuche; Aidan Gill; Roberto Giugliani
deleteShare
deleteSave
Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal results
deleteMolecular Genetics and Metabolism
IF3.5
delete2026-05-23
delete0
PREAI
deleteSchultz, Matthew J.; Liedtke, Kristen L.; Turgeon, Coleman T.; Matern, Dietrich; Hall, Patricia L.
deleteShare
deleteSave