Journal of Inherited Metabolic Disease

Papers
(The median citation count of Journal of Inherited Metabolic Disease is 2. 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.)
ArticleCitations
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I56
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders49
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency49
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms48
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II41
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders39
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment39
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases38
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening35
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy32
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate30
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism30
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria28
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts28
Towards values‐based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders25
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities25
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Mucopolysaccharidoses type I gene therapy22
Inborn errors of metabolism and their impact in paediatric dentistry22
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 study22
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease22
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein22
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Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease22
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients20
Ornithine transcarbamylase deficiency: A diagnostic odyssey20
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model20
Altered neural oscillations in classical galactosaemia during sentence production20
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 119
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases19
Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC‐Derived Cardiomyocytes17
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders17
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 therapies17
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells17
Gene therapy for mitochondrial disorders16
Brain morphometry in hepatic Wilson disease patients16
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment16
A 6‐month randomized controlled trial for vitamin E supplementation in pediatric patients with Gaucher disease: Effect on oxidative stress, disease severity and hepatic complications16
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study16
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders16
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency16
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Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia15
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 115
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 metabolism15
Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure15
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study14
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa−/− mice14
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways14
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia14
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective14
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency14
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases14
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria14
Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease14
Issue Information14
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening14
Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease14
On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies13
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease13
Issue Information13
Conserved quality control mechanisms of mitochondrial protein import13
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders13
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Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study13
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 fa12
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate12
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Patents vs patients 1‐0: The case of chenodeoxycholic acid12
Issue Information12
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 disorders12
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome12
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model12
Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria12
Gene expression changes in Tay–Sachs disease begin early in fetal brain development12
SSIEM 2022 Annual Symposium in Freiburg, Germany12
Obituary for Charles Rider Roe, MD12
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Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency11
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil11
Corrigendum11
Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy11
State‐of‐the‐art 2023 on gene therapy for phenylketonuria11
News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders11
Acute intermittent porphyria, givosiran, and homocysteine11
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Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders11
Postauthorization safety study of betaine anhydrous11
Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product11
Patterns of Penetrance and Expressivity of Long‐Term Outcomes in Classic Galactosemia11
Gene therapy for glycogen storage diseases11
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders11
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism11
Issue Information11
High dose genistein in Sanfilippo syndrome: A randomised controlled trial10
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency10
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 Metabolism10
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant10
Experimental models of Barth syndrome10
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients10
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Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia9
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Issue Information9
Clinical presentation and natural history of Barth Syndrome: An overview9
Issue Information9
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease9
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria9
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network9
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 disease9
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series9
Neurologic outcome following liver transplantation for methylmalonic aciduria9
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt9
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy8
A new D‐galactose treatment monitoring index for PGM1‐CDG8
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism8
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia8
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio8
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management8
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease8
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study8
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients8
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships8
Development of a novel tool for individual treatment trials in mucopolysaccharidosis8
Abstracts8
Beyond neuropsychological tests: AI speech analysis in PKU8
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals8
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update8
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias7
Review of the book “Vademecum Metabolicum, fifth edition”7
Mitochondrial membrane synthesis, remodelling and cellular trafficking7
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!7
Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease7
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism7
Issue Information7
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking7
Factors affecting activities of daily living among patients with Wilson disease7
Response to Downie et al.7
Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients7
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real‐world cohort of patients with Wilson disease7
Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria7
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1H HR‐MAS NMR7
Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1tm1Kds mice and X‐linked adrenoleukodystrophy patients7
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency7
The Therapeutic Future for Congenital Disorders of Glycosylation7
Issue Information6
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria6
Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?6
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐16
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA6
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings6
ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes6
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria6
Issue Information6
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency6
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2CDG)6
What can pediatricians learn from adult inherited metabolic diseases?6
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Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death6
Correction to Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study6
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Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism5
Epidemiology and economic burden of Wilson disease in France: A nationwide population‐based study5
Inborn disorders of the malate aspartate shuttle5
Risk and potential of ChatGPT in scientific publishing5
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes5
N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts5
From skin lesions to tyrosinemia type II diagnosis5
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures5
Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies5
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders5
EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms5
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning5
Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency5
Erratum5
Abstracts5
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up5
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations5
Correction to “Comparative Analysis of Gene and Disease Selection in Genomic Newborn Screening Studies”5
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry5
The complex machinery of human cobalamin metabolism5
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Correction to “Clinical presentation of 13 children with alkaptonuria”5
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey4
β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency4
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities4
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries4
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach4
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy4
Erratum4
Obituary for Dr. Lawrence “Larry” Sweetman, PhD, ABMG (1942–2022)4
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data4
The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside4
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands4
Human genetic defects of sphingolipid synthesis4
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT4
Obituary for Claude Bachmann, MD (1941–2022)4
Genetic aetiologies of acute liver failure4
Disorders of fatty acid homeostasis4
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3‐related CD27 expression in CD4 T cells in Fabry disease4
Citrin deficiency—The East‐side story4
Issue Information4
Issue Information4
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Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II3
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan3
In memoriam Willy Lehnert3
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency3
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors3
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples3
Neuronopathic Gaucher disease: Rare in the West, common in the East3
Issue Information3
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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 treatment3
Liver‐directed gene therapy for inherited metabolic diseases3
Corrigendum3
Gene therapies for mucopolysaccharidoses3
Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG3
Is the brain involved in patients with late‐onset Pompe disease?3
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up3
Issue Information3
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Quo vadis now: Beyond genomics to an era of personalised medicine3
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia3
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia3
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency3
Fatal cervical myelopathy in a child with glutaric aciduria type 13
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders3
New insights into the pathophysiology of methylmalonic acidemia3
Gene therapy for urea cycle defects: An update from historical perspectives to future prospects3
Aberrant autophagy in lysosomal storage disorders marked by a lysosomal SNARE protein shortage due to suppression of endocytosis3
Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant3
No effect of resveratrol in patients with mitochondrial myopathy: A cross‐over randomized controlled trial2
Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transport2
Integrative omics approaches to advance rare disease diagnostics2
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience2
No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo‐controlled cross‐over study2
How longitudinal observational studies can guide screening strategy for rare diseases2
Issue Information2
Risk of postpartum hemorrhage in multiparous women with Gaucher disease: A call for reconsidering enzyme replacement therapy in all pregnant patients2
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies2
Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy2
Issue Information2
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines2
Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency2
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran2
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