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 2021-08-01 to 2025-08-01.)

Article	Citations
Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels	83
Fabry cardiomyopathy in Finland: A Fabry registry study	75
First results of a head-to-head trial of pegunigalsidase alfa vs. agalsidase beta in Fabry disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study	70
Cover 2 / Ed. Board	48
Charles Scriver: Epitome of the physician scientist	47
Long-term follow-up in an adult patient with Schindler disease	42
Characterization of in vivo and in vitro drug screening models for Gaucher disease based on GBA-D409V-KI mice	40
Arimoclomol reduces levels of biomarkers of lipid burden in patients with Niemann-Pick disease type C	37
Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria	37
Clinical and laboratory profile of a pediatric Fabry disease cohort followed at a Brazilian reference center	35
Establishing the content validity of the Fabry Disease-Patient Reported Outcome (FD-PRO) for adolescent patients with Fabry disease	31
SANFILLIPPO SYNDROME TYPE A IN A BOY WITH DOWN SYNDROME: A DUAL DIAGNOSTIC CHALLENGE	31
Table of Contents	30
Biomimetic 3D tissue printing to create an in vitro bone model for Gaucher disease	29
A RAPID, IMPROVED METHOD FOR DETECTION OF N-ACETYLGLUTAMATE, N-CARBAMYLGLUTAMATE, AND N-ACETYLASPARTATE BY HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY	29
Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene	29
-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease	27
Analysis of pooled data from clinical trials in treatment-naïve patients with late-onset Pompe disease (LOPD) to inform on the efficacy of avalglucosidase alfa	27
Development of YH35995A, a novel highly potent and BBB-penetrating GCS inhibitor for the treatment of Gaucher disease	27
Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use	27
When simultaneous detection becomes possible: A new screening method for lysosomal diseases	26
Intra-articular administration of nonviral vectors aminh at mucopolysaccharidosis type I mice gene editing	26
MPS II models for the study of joint and bone pathophysiology using CRISPR/Cas9 technology	26
Insights into patients' expectations and treatment preferences based on the patient needs questionnaire: Interim results from the SATIS-Fab study in Fabry disease	24
Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening	24