Journal of Inherited Metabolic Disease

Papers
(The H4-Index of Journal of Inherited Metabolic Disease is 23. 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 2022-06-01 to 2026-06-01.)
ArticleCitations
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms75
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders57
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening51
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I42
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy36
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects33
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases33
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism31
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II30
Revisiting the Genetics of Hypophosphatasia30
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria28
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency28
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate28
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment28
Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles27
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?27
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders25
25
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease24
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 124
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 therapies23
Intramolecular Epistatic Interactions in Genetic Diseases23
Towards values‐based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders23
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 study23
Ornithine transcarbamylase deficiency: A diagnostic odyssey23
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