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 2021-04-01 to 2025-04-01.)

Article	Citations
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	53
Experimental models of Barth syndrome	49
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (<	47
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	46
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	39
Issue Information	38
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	37
Increased neurotoxicity of high‐density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very‐long‐chain fatty acid transporter Abcd1	34
Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease	32
Regulatory news: Olipudase alfa‐rpcp (Xenpozyme™) for treatment of non‐central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric pat	30
Issue Information	29
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders	28
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	27
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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age	24
Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium‐Chain Acyl‐CoA dehydrogenase deficiency	23
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Issue Information	22
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	22
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry	21
Issue Information	21
Issue Information	21
Delineating the epilepsy phenotype of NGLY1 deficiency	20
Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism	20
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	20

Pregnancy in cystinosis patients with chronic kidney disease: A European case series	19
Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening	19
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	19
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt	19
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	18
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	17
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	17
“East meets West”: SSIEM 2023 Annual Symposium at Jerusalem	16
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	16
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi‐Bickel syndrome with empagliflozin	16
Clinical presentation and natural history of Barth Syndrome: An overview	16
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Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5	15
Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy	15
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria	15
Exploring genotype–phenotype correlations in glutaric aciduria type 1	15
Erratum	14
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	14
Therapeutic liver cell transplantation to treat murine PKU	14
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency	14
Correction to “Clinical presentation of 13 children with alkaptonuria”	14
Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes	14
Erratum	14
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression	13
Issue Information	13
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey	13
Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism	13
International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy	13
Effectiveness of Kidney Transplantation in Treating Alkaptonuric Skin Ochronosis	13
Gene therapy for neurotransmitter‐related disorders	13
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder	13
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	13
Genetic aetiologies of acute liver failure	13
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision	12
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study	12
Neurologic outcome following liver transplantation for methylmalonic aciduria	12
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy	12
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	12
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental	12
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia	12
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	12
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	12
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	11
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	11
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	11
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	11
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience	11
Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency	11
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	11
Human genetic defects of sphingolipid synthesis	11

Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	11
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	11
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	11
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	11
The therapeutic landscape of citrin deficiency	11
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT	11
High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study	11
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	10
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Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II	10
In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930–2023)	10
Issue Information	10
Organic acidurias: Ingredients for precision medicine	10
Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients	9
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Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	9
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data	9
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	9
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	9
CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders	9
Quo vadis ureagenesis disorders? A journey from 90 years ago into the future	9
Obituary for Professor David Julian Timson, PhD	9
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency	9
Abstracts	9
Expression and function of the urea cycle in widely‐used hepatic cellular models	9
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment	9
Cellular and computational models reveal environmental and metabolic interactions in MMUT‐type methylmalonic aciduria	9
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia	8
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia	8
Altered neural oscillations in classical galactosaemia during sentence production	8
Inborn errors of metabolism and their impact in paediatric dentistry	8
Issue Information	8
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	8
Mucopolysaccharidoses type I gene therapy	8
Ornithine transcarbamylase deficiency: A diagnostic odyssey	8
Barth Syndrome Foundation: From humble beginnings to becoming an integral partner	8
Issue Information	8
Correction to “Isolated remethylation disorders: Do our treatments benefit patients?”	8
Disease models of Leigh syndrome: From yeast to organoids	8
Obituary for Dr. Lawrence “Larry” Sweetman, PhD, ABMG (1942–2022)	8
Obituary for Claude Bachmann, MD (1941–2022)	8
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
MPS I: Early diagnosis, bone disease and treatment, where are we now?	7
Liver‐directed gene therapy for inherited metabolic diseases	7
The doxycycline paradox in primary mitochondrial diseases	7
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Abstracts	7
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The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases	7
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	7
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study	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
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach	7
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	7
Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes	7
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	7
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program	7
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency	7
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management	7
Spermidine Treatment Improves GRIN2B Loss‐Of‐Function, A Primary Disorder of Glutamatergic Neurotransmission	7
A new D‐galactose treatment monitoring index for PGM1‐CDG	7
Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives	7
Biomarkers for drug development in propionic and methylmalonic acidemias	7
β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency	7
Neurotransmitters … it is all about communication!	7
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard	7