OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Inherited Metabolic Disease is 22. 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 2021-05-01 to 2025-05-01.)

Article	Citations
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	56
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	49
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	49
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	48
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	41
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	39
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	39
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	38
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	35
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	32
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	30
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	30
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	28
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	28
	25
Towards values‐based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders	25
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	25
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	22
	22
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	22
Mucopolysaccharidoses type I gene therapy	22
Inborn errors of metabolism and their impact in paediatric dentistry	22
Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study	22
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	22