OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Inherited Metabolic Disease is 21. 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 2020-11-01 to 2024-11-01.)

Article	Citations
An international classification of inherited metabolic disorders (ICIMD)	178
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision	146
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency	50
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines	46
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran	39
Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients	37
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision	36
Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment	34
Inborn disorders of the malate aspartate shuttle	33
Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria	29
Clinical presentation and natural history of Barth Syndrome: An overview	28
High dose genistein in Sanfilippo syndrome: A randomised controlled trial	26
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques	25
Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease	24
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency	23
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis	23
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach	22
GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes	22
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria	22
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5	21
Current progress with mammalian models of mitochondrialDNAdisease	21
Biomarkers for drug development in propionic and methylmalonic acidemias	21