OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Inherited Metabolic Disease is 24. 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 2020-04-01 to 2024-04-01.)

Article	Citations
An international classification of inherited metabolic disorders (ICIMD)	145
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision	117
Opportunities and challenges for antisense oligonucleotide therapies	81
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients	58
The definition of neuronopathic Gaucher disease	48
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network	45
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency	43
Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study	41
Moving towards clinical trials for mitochondrial diseases	41
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation	40
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines	40
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease	36
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran	34
Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study	34
Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data	33
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease	33
Novel therapies for mucopolysaccharidosis type III	30
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect	30
Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients	27
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management	26
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise	26
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut	25
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	25
Metabolic basis and treatment of citrin deficiency	25
Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria	24

The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria	24
High dose genistein in Sanfilippo syndrome: A randomised controlled trial	24
Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome	24
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions	24
Inborn disorders of the malate aspartate shuttle	24
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms	24