OOIR: Observatory of International Research

Papers

(The H4-Index of Molecular Genetics and Metabolism is 21. 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 2020-11-01 to 2024-11-01.)

Article	Citations
miRNAs as cornerstones in diabetic microvascular complications	63
The natural history of neurocognition in MPS disorders: A review	52
Disorders of purine biosynthesis metabolism	48
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease	43
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades	42
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment	38
Gaucher disease: Basic and translational science needs for more complete therapy and management	34
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?	33
Bloom syndrome and the underlying causes of genetic instability	32
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies	32
Current and potential new treatment strategies for creatine deficiency syndromes	31
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective	28
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes	27
Givosiran in acute intermittent porphyria: A personalized medicine approach	27
Assessing causal associations of obesity and diabetes with kidney stones using Mendelian randomization analysis	26
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan	26
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX	23
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York	22
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery	22
Nutrition status of adults with phenylketonuria treated with pegvaliase	22
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome	22
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I	21
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study	21