OOIR: Observatory of International Research

Papers

(The H4-Index of Molecular Genetics and Metabolism is 20. 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 2021-02-01 to 2025-02-01.)

Article	Citations
Rapid identification of IOPD and early-onset Pompe disease by biochemical enzymatic testing followed by genetic confirmation	63
Substrate reduction therapy for Pompe disease: Small molecule inhibition of glycogen synthase 1 in preclinical models	52
Establishing the content validity of the Fabry Disease-Patient Reported Outcome (FD-PRO) for adolescent patients with Fabry disease	50
Profile of disease-specific oligosaccharides in the cerebrospinal fluid of patients with mucopolysaccharidoses	43
Newborn screening for Gaucher disease in Japan	38
Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency	34
GSD II and two: A case series of Pompe disease with coexisting genetic diagnoses	34
Filipin composition and imaging modality dramatically affect cellular cholesterol visualisation with implications for assessing cholesterol levels and localisation across the lysosomal disorders	32
RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in human study	32
Characteristics of patients who have switched from alglucosidase alfa to avalglucosidase alfa: Baseline data from the Pompe Registry	31
Estimation of stroke risk in patients with Fabry disease using a machine learning model	31
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	26
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	26
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)	23
RTB-lectin facilitates the distribution of enzymes across the blood-brain-barrier and correction in the MPS IIIA mouse model	22
Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter	22
Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening	22
Safety and compliance of home infusion of velmanase alfa for the treatment of alpha-mannosidosis in the clinical trial and real-world settings	21
Spontaneous seizures associated with cortical interneuron loss in mice are ameliorated via gene therapy	21
A case of a presumed diagnosis of Morquio syndrome	20
Resolving variants of unknown significance and pseudodeficiency alleles	20