OOIR: Observatory of International Research

Papers

(The H4-Index of Molecular Genetics and Metabolism is 24. 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 2022-08-01 to 2026-08-01.)

Article	Citations
A RAPID, IMPROVED METHOD FOR DETECTION OF N-ACETYLGLUTAMATE, N-CARBAMYLGLUTAMATE, AND N-ACETYLASPARTATE BY HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY	115
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection	78
Update on high-risk population screening for neuronal ceroid lipofuscinoses (NCL1 and NCL2)	75
Rainbow study: Phase 2 study of nizubaglustat as an investigational treatment for Niemann-Pick disease type C and GM2 gangliosidosis	74
Longer-term efficacy and safety evaluation of arimoclomol treatment in patients with Niemann-Pick disease type C – Data from 48 months open label trial	68
Campsiite® phase I/II/III: an interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II)	68
A novel AAV-based gene therapy strategy reverses lethality in a murine model of neuronopathic Gaucher disease	49
Assessment of carnitine deficiency in Moroccan patients: A high sensitivity and specificity enzymatic approach	45
Cardiovascular structure and function in MPS VII subjects	44
Evaluation of the correlation coefficient to determine the severity of bone marrow infiltration between bone marrow burden, fat fraction and Lyso GL1 in adult patients with Gaucher disease. A Study fr	43
Communication and eating & drinking skills in five children with CLN2 at the time of diagnosis	37
Cover 2 / Ed. Board	35
-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease	34
Cover 2 / Ed. Board	32
Development of YH35995A, a novel highly potent and BBB-penetrating GCS inhibitor for the treatment of Gaucher disease	30
Intra-articular administration of nonviral vectors aminh at mucopolysaccharidosis type I mice gene editing	30
When simultaneous detection becomes possible: A new screening method for lysosomal diseases	28
Unveiling Fabry disease journey to diagnosis: An analysis based on two United States claims databases	28
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease	27
Variable clinical and brain neuroradiological manifestations in four patients with beta mannosidosis	27
P.16 Novel tool for dietary management and monitoring in clinical trials of pegtibatinase, an investigational enzyme replacement therapy for classical homocystinuria	26
MPS II models for the study of joint and bone pathophysiology using CRISPR/Cas9 technology	26
Elucidation of the pathogenesis of heparan sulfate in MPS IIIB mice using a membrane-tethered form of NAGLU	26
Impact of ASGR1 on the hepatic expression and localization of NEU1	25
Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency	24

Cipaglucosidase alfa and miglustat under the Early Access to Medicines Scheme (EAMS): A single centre experience	24
Charles Scriver: Epitome of the physician scientist	24
Life-span extension in Krabbe disease mice by treatment with a transferrin receptor-targeted galactocerebrosidase	24