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 2021-05-01 to 2025-05-01.)

Article	Citations
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	56
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	49
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	49
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	48
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	41
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	39
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	39
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	38
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	35
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	32
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	30
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	30
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	28
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	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	25
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	25
	25
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	22
Mucopolysaccharidoses type I gene therapy	22
Inborn errors of metabolism and their impact in paediatric dentistry	22
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	22
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	22
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	22
	22
Altered neural oscillations in classical galactosaemia during sentence production	20

Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	20
Ornithine transcarbamylase deficiency: A diagnostic odyssey	20
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model	20
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	19
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	17
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	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
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells	17
Gene therapy for mitochondrial disorders	16
Brain morphometry in hepatic Wilson disease patients	16
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	16
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	16
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study	16
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders	16
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency	16
	16
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	15
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	15
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	15
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	15
Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure	15
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening	14
Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease	14
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	14
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa^−/− mice	14
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	14
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia	14
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective	14
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency	14
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	14
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	14
Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease	14
Issue Information	14
On pathways and blind alleys—The importance of biomarkers in vitamin B₆‐dependent epilepsies	13
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease	13
Issue Information	13
Conserved quality control mechanisms of mitochondrial protein import	13
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders	13
	13
Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre 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	12
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate	12
	12
Patents vs patients 1‐0: The case of chenodeoxycholic acid	12
Issue Information	12
Letter to the editor in response to Betzler et al.	12
Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders	12
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome	12
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model	12

Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria	12
Gene expression changes in Tay–Sachs disease begin early in fetal brain development	12
SSIEM 2022 Annual Symposium in Freiburg, Germany	12
Obituary for Charles Rider Roe, MD	12
	12
Gene therapy for glycogen storage diseases	11
Issue Information	11
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders	11
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency	11
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism	11
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil	11
Corrigendum	11
News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders	11
Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy	11
Acute intermittent porphyria, givosiran, and homocysteine	11
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	11
	11
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic 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
Patterns of Penetrance and Expressivity of Long‐Term Outcomes in Classic Galactosemia	11
	10
High dose genistein in Sanfilippo syndrome: A randomised controlled trial	10
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency	10
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	10
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism	10
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	10
Experimental models of Barth syndrome	10
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients	10
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	9
Neurologic outcome following liver transplantation for methylmalonic aciduria	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
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	9
	9
Issue Information	9
Clinical presentation and natural history of Barth Syndrome: An overview	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
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria	9
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	9
Neurotransmitters … it is all about communication!	9
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	9
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	8
Abstracts	8
Beyond neuropsychological tests: AI speech analysis in PKU	8
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals	8
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update	8
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	8
A new D‐galactose treatment monitoring index for PGM1‐CDG	8
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism	8
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia	8
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio	8
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management	8
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease	8
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	8
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients	8
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	8