OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Inherited Metabolic Disease is 20. 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
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	68
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	54
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	51
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	45
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	44
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	40
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	36
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	34
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	32
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	30
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	28
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	28
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	28
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	27
	27
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	27
	25
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases	23
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	23
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	21
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	20