OOIR: Observatory of International Research

Papers

(The H4-Index of Molecular Genetics and Metabolism is 25. 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 2021-11-01 to 2025-11-01.)

Article	Citations
SANFILLIPPO SYNDROME TYPE A IN A BOY WITH DOWN SYNDROME: A DUAL DIAGNOSTIC CHALLENGE	93
A RAPID, IMPROVED METHOD FOR DETECTION OF N-ACETYLGLUTAMATE, N-CARBAMYLGLUTAMATE, AND N-ACETYLASPARTATE BY HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY	81
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection	75
Update on high-risk population screening for neuronal ceroid lipofuscinoses (NCL1 and NCL2)	54
Rainbow study: Phase 2 study of nizubaglustat as an investigational treatment for Niemann-Pick disease type C and GM2 gangliosidosis	53
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)	47
Longer-term efficacy and safety evaluation of arimoclomol treatment in patients with Niemann-Pick disease type C – Data from 48 months open label trial	43
A novel AAV-based gene therapy strategy reverses lethality in a murine model of neuronopathic Gaucher disease	42
Assessment of carnitine deficiency in Moroccan patients: A high sensitivity and specificity enzymatic approach	41
Cardiovascular structure and function in MPS VII subjects	37
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	34
Communication and eating & drinking skills in five children with CLN2 at the time of diagnosis	33
Cover 2 / Ed. Board	32
Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling	31
Oxidative metabolism induces differential miRNA expression in mitochondrial disease LCLS	31
The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review	29
Persistently elevated alloisoleucine in a patient without maple syrup urine disease	29
Corrigendum to “Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data” [Molecular Genetics and Metabolism 141, Issue 3 (2024) 1081	29
In-vitro characterization of MZE001, an orally active GYS1 inhibitor to treat Pompe disease	28
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes	27
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation	26
Cover 2 / Ed. Board	25
Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria	25
TPI deficiency: A case report and review of the literature	25
Molecular Trojan Horses for treating lysosomal storage diseases	25

Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review	25
Phase 1/2 dose-finding study to evaluate systemic administration of an AAV9-based gene therapy for peripheral manifestation of Gaucher disease: The PROCEED study	25