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 2021-06-01 to 2025-06-01.)

Article	Citations
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	60
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	49
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	49
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	39
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	39
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	36
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	34
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	32
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	31
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	31
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	29
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	26
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	26
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	25
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Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	25
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	24
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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	23
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	22
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases	21
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	21
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	21
Altered neural oscillations in classical galactosaemia during sentence production	20
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	20

Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	20
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	19
Ornithine transcarbamylase deficiency: A diagnostic odyssey	17
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells	17
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model	17
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	17
Mucopolysaccharidoses type I gene therapy	17
Inborn errors of metabolism and their impact in paediatric dentistry	17
Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC‐Derived Cardiomyocytes	17
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa^−/− mice	16
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	16
	16
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective	16
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency	16
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	16
Gene therapy for mitochondrial disorders	16
Brain morphometry in hepatic Wilson disease patients	16
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	15
Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease	15
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	15
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia	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
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	15
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study	15
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	15
Issue Information	14
Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease	14
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	14
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Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure	14
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders	14
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	14
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders	14
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	14
Issue Information	14
Letter to the editor in response to Betzler et al.	13
Conserved quality control mechanisms of mitochondrial protein import	13
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate	13
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening	13
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency	13
Gene expression changes in Tay–Sachs disease begin early in fetal brain development	13
Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria	13
Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study	13
On pathways and blind alleys—The importance of biomarkers in vitamin B₆‐dependent epilepsies	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	12
Obituary for Charles Rider Roe, MD	12
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders	12
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism	12
Gene therapy for glycogen storage diseases	12
Patents vs patients 1‐0: The case of chenodeoxycholic acid	12

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Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy	12
Postauthorization safety study of betaine anhydrous	12
SSIEM 2022 Annual Symposium in Freiburg, Germany	12
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease	12
Issue Information	12
Corrigendum	12
Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product	12
Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders	12
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model	12
Issue Information	11
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	11
High dose genistein in Sanfilippo syndrome: A randomised controlled trial	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
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome	11
	11
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil	11
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders	11
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism	11
Acute intermittent porphyria, givosiran, and homocysteine	11
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency	11
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients	10
Issue Information	10
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Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	10
Patterns of Penetrance and Expressivity of Long‐Term Outcomes in Classic Galactosemia	10
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Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	10
Abstracts	9
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	9
Beyond neuropsychological tests: AI speech analysis in PKU	9
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt	9
Experimental models of Barth syndrome	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
Neurotransmitters … it is all about communication!	9
Issue Information	9
Neurologic outcome following liver transplantation for methylmalonic aciduria	9
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	9
Clinical presentation and natural history of Barth Syndrome: An overview	9
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	9
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	9
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	9
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	9
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	9
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria	9
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio	8
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real‐world cohort of patients with Wilson disease	8
Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease	8
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism	8
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease	8
Response to Downie et al.	8
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients	8
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!	8
Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients	8
Factors affecting activities of daily living among patients with Wilson disease	8
A new D‐galactose treatment monitoring index for PGM1‐CDG	8
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals	8
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency	8
The Therapeutic Future for Congenital Disorders of Glycosylation	8
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update	8