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Molecular Syndromology|September 28, 2023
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular ChangesMara Grassi, Bernard Laubscher, Amit V Pandey, et al.
Frontiers in Neurology|August 28, 2025
Heterozygosity in NPC may be associated with neurologic and systemic phenotypesTatiana Brémovà-Ertl, Sabina Tahirovic, Silva Katušić Hećimović, et al.
Molecular Genetics and Metabolism|July 25, 2018
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic controlThorsten Hornemann, Irina Alecu, Niels Hagenbuch, et al.
Molecular Genetics and Metabolism|June 10, 2017
Epidemiology of mucopolysaccharidosesShaukat A Khan, Hira Peracha, Diana Ballhausen, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiencyAlexander Laemmle, Andrea Lisa Steck, André Schaller, et al.
JIMD Reports|April 10, 2017
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical GalactosemiaLindsey Welling, Susan E Waisbren, Kevin M Antshel, et al.
European Journal of Human Genetics : EJHG|October 28, 2025
Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphologyMelek Firat Altay, Anne Gregor, Dominique Braun, et al.
JIMD Reports|September 6, 2021
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intakeEileen P Treacy, Sebastian Vencken, Annet M Bosch, et al.
Molecular Genetics and Metabolism|February 15, 2025
Kidney involvement in glycogen storage disease type I: Current knowledge and key challengesAnke Schumann, Sven F Garbade, Skadi Beblo, et al.
Molecular Genetics and Metabolism Reports|June 28, 2022
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolismFlorin Bösch, Markus A Landolt, Matthias R Baumgartner, et al.
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