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 2020-04-01 to 2024-04-01.)

Article	Citations
miRNAs as cornerstones in diabetic microvascular complications	58
Clinical trials in mitochondrial disorders, an update	44
The natural history of neurocognition in MPS disorders: A review	43
The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies	43
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial	40
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience	39
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study	38
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach	35
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades	33
Disorders of purine biosynthesis metabolism	31
Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/α-ketoglutarate metabolism in mitochondrial disease	31
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective	28
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment	28
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies	28
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy	27
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-athe	27
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females	27
Gaucher disease: Basic and translational science needs for more complete therapy and management	27
Development of a neurologic severity scale for Aicardi Goutières Syndrome	26
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease	26
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints	25
Bloom syndrome and the underlying causes of genetic instability	25
The Undiagnosed Diseases Network International: Five years and more!	24
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges	24
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes	24

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)	24
Metabolomics in acute myeloid leukemia	24