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 2022-08-01 to 2026-08-01.)

Article	Citations
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	76
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	59
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	52
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	42
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	41
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	39
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	37
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	37
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?	35
Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles	34
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	34
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	33
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	32
Revisiting the Genetics of Hypophosphatasia	31
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects	31
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	30
	29
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	29
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	28
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	27
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	26
Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC ‐Derived Cardiomyocytes	25
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	25
Altered neural oscillations in classical galactosaemia during sentence production	25
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	25

Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	24
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	23
Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I	23
Intramolecular Epistatic Interactions in Genetic Diseases	23
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Brain Age in Adult Patients With Early‐Treated Phenylketonuria	23
Natural History of Morquio A Syndrome	23
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	22
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa^−/− mice	22
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	22
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective	22
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Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	22
Issue Information	21
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders	21
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	20
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	20
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	20
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	20
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency	20
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	19
Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease	18
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	18
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study	17
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	17
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Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	17
Brain morphometry in hepatic Wilson disease patients	17
Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure	17
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders	17
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	17
First in Human Gene Editing for an Inherited Metabolic Disease	17
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta‐Analysis	17
Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Eliminati	16
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches	16
Aminoacyl‐ tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies	16
Correction to “Revisiting the Genetics of Hypophosphatasia”	16
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Gene therapy for mitochondrial disorders	15
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	14
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate	14
Letter to the editor in response to Betzler et al.	14
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease	14
On pathways and blind alleys—The importance of biomarkers in vitamin B₆‐dependent epilepsies	14
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders	14
Issue Information	14
Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria	14
Gene expression changes in Tay–Sachs disease begin early in fetal brain development	13
Personalized Genotype‐Based Approach for Treatment of Phenylketonuria	13
Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis	13

The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation‐Wide Study	13
Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease	13
Conserved quality control mechanisms of mitochondrial protein import	13
	13
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency	13
Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders	12
From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D‐Bifunctional Protein Deficiency in a Multicentre International Case Series	12
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders	12
SSIEM 2022 Annual Symposium in Freiburg, Germany	12
Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy	12
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	12
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model	12
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders	12
In Memoriam Douglas S. Kerr	11
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	11
Trial Readiness: Understanding the Natural History of Rare Diseases	11
Gene therapy for glycogen storage diseases	11
Clinical Implications of Studying the Coupled Reaction of Phenylalanine Hydroxylase In Vitro and In Vivo	11
Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach	10
Issue Information	10
Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product	10
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long‐Chain Fatty Acid Oxidation Disorders	10
Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity	10
News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders	10
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism	10
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis	10
	10
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency	10
Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies	10
Patterns of Penetrance and Expressivity of Long‐Term Outcomes in Classic Galactosemia	10
Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review	9
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Issue Information	9
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials	9
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	9
Issue Information	9
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	9
Issue Information	9
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	9
Information Theory Analysis of CTX Shows Consistent Clinical Presentation	9
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	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
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	9
Neurologic outcome following liver transplantation for methylmalonic aciduria	9
Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening	9
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A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women	9
Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I	9
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	9
Professor Ewa Pronicka Obituary	9
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	8
Abstracts	8
Real‐Life Application of a Point‐of‐Care Biosensor for Phenylalanine in Patients With Phenylketonuria	8
Multimodal Noninvasive Biomarker Characterization of Structural and Functional Alterations in ADSS1 ‐Deficient Myopathy	8
Factors affecting activities of daily living among patients with Wilson disease	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
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	8
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	8
Myo‐Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI	8
Response to Downie et al.	8
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals	8
Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver‐Specific Glycogen Storage Disease Type Ia ( GSD Ia) Mice: Toward Potentia	8
Issue Information	8
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort S tudy	8
Beyond neuropsychological tests: AI speech analysis in PKU	8
Therapies for Mitochondrial Disease: Past, Present, and Future	8
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism	8
Mitochondrial membrane synthesis, remodelling and cellular trafficking	8
Obituary: William L. Nyhan, MD , PhD . (1926–2026)	8