OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Inherited Metabolic Disease 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 2022-08-01 to 2026-08-01.)

Article	Citations
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	76
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	59
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	52
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	42
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	41
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	39
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	37
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	37
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?	35
Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles	34
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	34
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	33
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	32
Revisiting the Genetics of Hypophosphatasia	31
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects	31
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	30
	29
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	29
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	28
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	27
A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies	26
Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC ‐Derived Cardiomyocytes	25
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	25
Altered neural oscillations in classical galactosaemia during sentence production	25
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	25