OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Inherited Metabolic Disease is 8. 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 2021-08-01 to 2025-08-01.)

Article	Citations
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	68
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	54
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	51
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	45
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	44
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	40
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	36
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	34
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	32
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	30
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	28
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	28
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	28
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	27
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Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	27
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The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases	23
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	23
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	21
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	20
Inborn errors of metabolism and their impact in paediatric dentistry	19
Altered neural oscillations in classical galactosaemia during sentence production	19
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	19
Ornithine transcarbamylase deficiency: A diagnostic odyssey	19

Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	18
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model	18
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells	18
Towards values‐based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders	18
Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC‐Derived Cardiomyocytes	17
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Intramolecular Epistatic Interactions in Genetic Diseases	17
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective	17
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	17
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 therapies	17
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 study	17
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	16
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	16
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	16
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia	16
Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease	16
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	16
Issue Information	16
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders	15
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	15
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	15
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency	15
A 6‐month randomized controlled trial for vitamin E supplementation in pediatric patients with Gaucher disease: Effect on oxidative stress, disease severity and hepatic complications	15
Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease	15
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	15
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	15
First in Human Gene Editing for an Inherited Metabolic Disease	15
Brain morphometry in hepatic Wilson disease patients	15
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	15
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa^−/− mice	15
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders	15
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study	15
Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure	14
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening	14
Gene therapy for mitochondrial disorders	14
Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria	14
On pathways and blind alleys—The importance of biomarkers in vitamin B₆‐dependent epilepsies	14
	14
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency	14
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders	14
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease	14
Gene expression changes in Tay–Sachs disease begin early in fetal brain development	14
Conserved quality control mechanisms of mitochondrial protein import	14
Issue Information	14
Letter to the editor in response to Betzler et al.	14
Corrigendum	13
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate	13
Personalized Genotype‐Based Approach for Treatment of Phenylketonuria	13
Postauthorization safety study of betaine anhydrous	13
Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study	13

	13
Obituary for Charles Rider Roe, MD	13
Impaired coenzyme A homeostasis in cardiac dysfunction and benefits of boosting coenzyme A production with vitamin B5 and its derivatives in the management of heart fa	13
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Issue Information	12
Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy	12
SSIEM 2022 Annual Symposium in Freiburg, Germany	12
Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach	12
Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product	12
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism	12
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model	12
Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders	12
Patents vs patients 1‐0: The case of chenodeoxycholic acid	12
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders	12
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders	12
Gene therapy for glycogen storage diseases	12
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome	12
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	11
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency	11
Issue Information	11
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis	11
	11
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients	11
Patterns of Penetrance and Expressivity of Long‐Term Outcomes in Classic Galactosemia	11
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency	11
News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders	11
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil	11
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism	11
	10
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	10
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Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	10
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	10
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long‐Chain Fatty Acid Oxidation Disorders	10
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	10
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt	10
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	10
Experimental models of Barth syndrome	9
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	9
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	9
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio	9
Neurologic outcome following liver transplantation for methylmalonic aciduria	9
Clinical presentation and natural history of Barth Syndrome: An overview	9
Neurotransmitters … it is all about communication!	9
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	9
Issue Information	9
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	9
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	9
Issue Information	8
Factors affecting activities of daily living among patients with Wilson disease	8
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia	8
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias	8
Beyond neuropsychological tests: AI speech analysis in PKU	8
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update	8
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals	8
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism	8
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	8
Therapies for Mitochondrial Disease: Past, Present, and Future	8
Abstracts	8
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism	8
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease	8