Journal of Inherited Metabolic Disease

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 2021-02-01 to 2025-02-01.)
ArticleCitations
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network154
High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study39
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)39
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders37
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders34
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria33
Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency29
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II28
Human genetic defects of sphingolipid synthesis26
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms25
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental 24
Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long‐term management of patie24
Experimental models of Barth syndrome24
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 202122
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant22
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder22
Issue Information21
Issue Information21
Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease20
Increased neurotoxicity of high‐density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very‐long‐chain fatty acid transporter Abcd120
Regulatory news: Olipudase alfa‐rpcp (Xenpozyme™) for treatment of non‐central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric pat20
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series20
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