OOIR: Observatory of International Research

Papers

(The H4-Index of Molecular Genetics and Metabolism is 22. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-04-01 to 2025-04-01.)

Article	Citations
Rapid identification of IOPD and early-onset Pompe disease by biochemical enzymatic testing followed by genetic confirmation	68
Substrate reduction therapy for Pompe disease: Small molecule inhibition of glycogen synthase 1 in preclinical models	65
Establishing the content validity of the Fabry Disease-Patient Reported Outcome (FD-PRO) for adolescent patients with Fabry disease	63
Profile of disease-specific oligosaccharides in the cerebrospinal fluid of patients with mucopolysaccharidoses	58
Newborn screening for Gaucher disease in Japan	39
GSD II and two: A case series of Pompe disease with coexisting genetic diagnoses	38
RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in human study	38
Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency	38
Filipin composition and imaging modality dramatically affect cellular cholesterol visualisation with implications for assessing cholesterol levels and localisation across the lysosomal disorders	36
Characteristics of patients who have switched from alglucosidase alfa to avalglucosidase alfa: Baseline data from the Pompe Registry	32
Estimation of stroke risk in patients with Fabry disease using a machine learning model	30
Quantitative systems pharmacology (QSP) analysis predicts that olipudase alfa treatment of patients with extreme acid sphingomyelinase deficiencies can result in meaningful debulking of visceral tissu	27
Case-based education on Gaucher disease significantly improves physician competence in appropriate next steps after suspecting the diagnosis	27
FDrisk: Development of a validated risk assessment tool for Fabry disease utilizing electronic health record data	27
Atidarsagene autotemcel, a European post-regulatory approval model for delivery of autologous hematopoietic stem cell gene therapy products via a network of qualified treatment centers (QTCs)	26
RTB-lectin facilitates the distribution of enzymes across the blood-brain-barrier and correction in the MPS IIIA mouse model	24
Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter	24
Safety and compliance of home infusion of velmanase alfa for the treatment of alpha-mannosidosis in the clinical trial and real-world settings	24
Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening	24
A case of a presumed diagnosis of Morquio syndrome	23
Spontaneous seizures associated with cortical interneuron loss in mice are ameliorated via gene therapy	23
Empowering the GM1 and GM2 community with a co-created education resource about a natural history study	22
A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis	22
Resolving variants of unknown significance and pseudodeficiency alleles	22