OOIR: Observatory of International Research

Papers

(The H4-Index of Molecular Genetics and Metabolism is 26. 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 2022-01-01 to 2026-01-01.)

Article	Citations
SANFILLIPPO SYNDROME TYPE A IN A BOY WITH DOWN SYNDROME: A DUAL DIAGNOSTIC CHALLENGE	100
A RAPID, IMPROVED METHOD FOR DETECTION OF N-ACETYLGLUTAMATE, N-CARBAMYLGLUTAMATE, AND N-ACETYLASPARTATE BY HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY	87
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection	77
Rainbow study: Phase 2 study of nizubaglustat as an investigational treatment for Niemann-Pick disease type C and GM2 gangliosidosis	56
Update on high-risk population screening for neuronal ceroid lipofuscinoses (NCL1 and NCL2)	56
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)	52
Longer-term efficacy and safety evaluation of arimoclomol treatment in patients with Niemann-Pick disease type C – Data from 48 months open label trial	48
A novel AAV-based gene therapy strategy reverses lethality in a murine model of neuronopathic Gaucher disease	45
Assessment of carnitine deficiency in Moroccan patients: A high sensitivity and specificity enzymatic approach	44
Cardiovascular structure and function in MPS VII subjects	40
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	39
Communication and eating & drinking skills in five children with CLN2 at the time of diagnosis	35
-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease	34
Cover 2 / Ed. Board	34
Development of YH35995A, a novel highly potent and BBB-penetrating GCS inhibitor for the treatment of Gaucher disease	31
Intra-articular administration of nonviral vectors aminh at mucopolysaccharidosis type I mice gene editing	31
Cover 2 / Ed. Board	31
Unveiling Fabry disease journey to diagnosis: An analysis based on two United States claims databases	30
When simultaneous detection becomes possible: A new screening method for lysosomal diseases	30
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease	29
MPS II models for the study of joint and bone pathophysiology using CRISPR/Cas9 technology	28
Variable clinical and brain neuroradiological manifestations in four patients with beta mannosidosis	28
Life-span extension in Krabbe disease mice by treatment with a transferrin receptor-targeted galactocerebrosidase	27
P.16 Novel tool for dietary management and monitoring in clinical trials of pegtibatinase, an investigational enzyme replacement therapy for classical homocystinuria	27
Impact of ASGR1 on the hepatic expression and localization of NEU1	27

Elucidation of the pathogenesis of heparan sulfate in MPS IIIB mice using a membrane-tethered form of NAGLU