OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Inherited Metabolic Disease is 7. 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 2022-01-01 to 2026-01-01.)

Article	Citations
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	65
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	56
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	48
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	43
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?	35
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	32
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	32
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	32
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	30
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	30
Revisiting the Genetics of Hypophosphatasia	29
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	28
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects	28
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	27
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	26
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	23
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	23
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	23
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	23
	22
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	21
Inborn errors of metabolism and their impact in paediatric dentistry	21
Altered neural oscillations in classical galactosaemia during sentence production	20
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model	20
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	20

Ornithine transcarbamylase deficiency: A diagnostic odyssey	20
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	20
Intramolecular Epistatic Interactions in Genetic Diseases	20
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	20
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases	19
Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC ‐Derived Cardiomyocytes	19
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	19
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	19
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective	18
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	18
	18
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia	18
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	18
First in Human Gene Editing for an Inherited Metabolic Disease	17
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	17
Issue Information	17
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders	17
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	17
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency	17
Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5‐Anhydroglucitol	17
	17
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	17
Correction to “Revisiting the Genetics of Hypophosphatasia”	16
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches	16
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	16
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta‐Analysis	16
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
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders	15
Gene therapy for mitochondrial disorders	15
Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure	15
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	15
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	15
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa^−/− mice	14
Issue Information	14
Gene expression changes in Tay–Sachs disease begin early in fetal brain development	14
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study	14
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	14
Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria	14
Conserved quality control mechanisms of mitochondrial protein import	14
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	14
Brain morphometry in hepatic Wilson disease patients	14
	14
Letter to the editor in response to Betzler et al.	14
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate	14
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	14
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease	13
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders	13
Personalized Genotype‐Based Approach for Treatment of Phenylketonuria	13
The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation‐Wide Study	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
	13
	13
On pathways and blind alleys—The importance of biomarkers in vitamin B₆‐dependent epilepsies	13
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency	13
Obituary for Charles Rider Roe, MD	13
Clinical Implications of Studying the Coupled Reaction of Phenylalanine Hydroxylase In Vitro and In Vivo	12
Corrigendum	12
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome	12
Issue Information	12
In Memoriam Douglas S. Kerr	12
	12
Trial Readiness: Understanding the Natural History of Rare Diseases	11
SSIEM 2022 Annual Symposium in Freiburg, Germany	11
Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach	11
Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy	11
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model	11
Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders	11
Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product	11
Postauthorization safety study of betaine anhydrous	11
	10
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders	10
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders	10
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	10
Issue Information	10
Gene therapy for glycogen storage diseases	10
From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D‐Bifunctional Protein Deficiency in a Multicentre International Case Series	10
Patterns of Penetrance and Expressivity of Long‐Term Outcomes in Classic Galactosemia	9
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long‐Chain Fatty Acid Oxidation Disorders	9
Information Theory Analysis of CTX Shows Consistent Clinical Presentation	9
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency	9
	9
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency	9
Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies	9
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism	9
	9
News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders	9
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis	9
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients	9
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	9
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	8
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	8
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	8
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	8
Therapies for Mitochondrial Disease: Past, Present, and Future	8
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	8
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	8
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	8
Neurotransmitters … it is all about communication!	8
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	8
Issue Information	8
Neurologic outcome following liver transplantation for methylmalonic aciduria	8
Issue Information	8
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	8
Issue Information	8
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt	8
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real‐world cohort of patients with Wilson disease	7
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease	7
Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease	7
Beyond neuropsychological tests: AI speech analysis in PKU	7
Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X‐Linked Adrenoleukodystrophy	7
Real‐World Migalastat Use in Fabry Disease: Comparative Insights From the Pisani and Hughes Studies	7
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia	7
Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease	7
Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients	7
Abstracts	7
Myo‐Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI	7
The Therapeutic Future for Congenital Disorders of Glycosylation	7
Factors affecting activities of daily living among patients with Wilson disease	7
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias	7
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism	7
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care	7
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism	7
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update	7
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	7
Response to Downie et al.	7
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals	7
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!	7
Mitochondrial membrane synthesis, remodelling and cellular trafficking	7