OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Inherited Metabolic Disease is 6. 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 2021-03-01 to 2025-03-01.)

Article	Citations
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	154
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	39
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	39
High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study	37
Human genetic defects of sphingolipid synthesis	34
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	33
Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long‐term management of patie	29
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	28
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	26
Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency	25
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	24
Experimental models of Barth syndrome	24
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental	24
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021	22
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder	22
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	21
Issue Information	21
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	20
Issue Information	20
Increased neurotoxicity of high‐density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very‐long‐chain fatty acid transporter Abcd1	20
Issue Information	20
Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease	19
Regulatory news: Olipudase alfa‐rpcp (Xenpozyme™) for treatment of non‐central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric pat	18
Issue Information	18
Editorial: Mitochondrial medicine special issue	17

Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age	17
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders	17
No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo‐controlled cross‐over study	17
Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium‐Chain Acyl‐CoA dehydrogenase deficiency	16
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Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study	16
Genetic aetiologies of acute liver failure	15
Issue Information	15
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Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression	14
Issue Information	14
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	14
Obituary	13
Delineating the epilepsy phenotype of NGLY1 deficiency	13
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry	13
Issue Information	13
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency	13
Gene therapy for neurotransmitter‐related disorders	13
Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long‐chain fatty acid oxidation disorders: FDA approval summary	13
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (<	13
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy	12
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	12
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT	12
Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism	12
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	12
Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening	12
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	12
Effectiveness of Kidney Transplantation in Treating Alkaptonuric Skin Ochronosis	12
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	11
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	11
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	11
Pregnancy in cystinosis patients with chronic kidney disease: A European case series	11
Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism	11
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	11
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt	11
Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood‐testis barrier and a subtherapeutic effect of cysteamine in testis	11
Neurologic outcome following liver transplantation for methylmalonic aciduria	11
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Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	10
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia	10
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi‐Bickel syndrome with empagliflozin	10
“East meets West”: SSIEM 2023 Annual Symposium at Jerusalem	10
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	10
Clinical presentation and natural history of Barth Syndrome: An overview	10
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria	9
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision	9
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey	9
Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes	9
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision	9
Correction to “Clinical presentation of 13 children with alkaptonuria”	9

Exploring genotype–phenotype correlations in glutaric aciduria type 1	9
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	9
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model	9
The therapeutic landscape of citrin deficiency	9
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	9
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5	9
Erratum	9
Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy	9
Therapeutic liver cell transplantation to treat murine PKU	9
Erratum	9
International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy	9
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Liver‐directed gene therapy for inherited metabolic diseases	8
Organic acidurias: Ingredients for precision medicine	8
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard	8
Correction to “Isolated remethylation disorders: Do our treatments benefit patients?”	8
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan	8
In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930–2023)	8
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Mission possible: Gene therapy for inherited metabolic diseases	8
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia	8
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	8
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells	8
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	8
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data	8
Issue Information	8
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II	8
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia	8
Cellular and computational models reveal environmental and metabolic interactions in MMUT‐type methylmalonic aciduria	8
Hand fine motor control in classic galactosemia	7
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Ornithine transcarbamylase deficiency: A diagnostic odyssey	7
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency	7
Creatine transport and pathological changes in creatine transporter deficient mice	7
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	7
Issue Information	7
Issue Information	7
Obituary for Claude Bachmann, MD (1941–2022)	7
CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders	7
Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease: Results from a randomized, placebo‐controlled, double‐blind, cross‐over study	7
Barth Syndrome Foundation: From humble beginnings to becoming an integral partner	7
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Obituary for Dr. Lawrence “Larry” Sweetman, PhD, ABMG (1942–2022)	7
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency	7
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	7
Inborn errors of metabolism and their impact in paediatric dentistry	7
Abstracts	6
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach	6
Altered neural oscillations in classical galactosaemia during sentence production	6
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands	6
Neurotransmitters … it is all about communication!	6
A new D‐galactose treatment monitoring index for PGM1‐CDG	6
Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients	6
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	6
Congenital disorders of glycosylation with defective fucosylation	6
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases	6
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	6
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	6
The doxycycline paradox in primary mitochondrial diseases	6
Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment	6
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3‐related CD27 expression in CD4 T cells in Fabry disease	6
Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes	6
Abstracts	6
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency	6