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 2022-05-01 to 2026-05-01.)
ArticleCitations
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms74
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders61
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment55
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy50
Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles41
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening35
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism33
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I32
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency31
Revisiting the Genetics of Hypophosphatasia29
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects29
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases29
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders28
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II27
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?27
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate26
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria26
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 125
25
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease24
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 study24
Ornithine transcarbamylase deficiency: A diagnostic odyssey23
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
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