Journal of Inherited Metabolic Disease

Article	Citations
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	75
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	57
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	51
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	36
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects	33
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases	33
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	31
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	30
Revisiting the Genetics of Hypophosphatasia	30
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	28
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	28
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	28
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	28
Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles	27
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?	27
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The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	25
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	24
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	24
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	23
Intramolecular Epistatic Interactions in Genetic Diseases	23
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	23
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
Ornithine transcarbamylase deficiency: A diagnostic odyssey	23

Altered neural oscillations in classical galactosaemia during sentence production	22
Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC ‐Derived Cardiomyocytes	22
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	22
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	21
Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I	21
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	21
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Brain Age in Adult Patients With Early‐Treated Phenylketonuria	21
Natural History of Morquio A Syndrome	20
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia	19
Brain morphometry in hepatic Wilson disease patients	19
First in Human Gene Editing for an Inherited Metabolic Disease	19
Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease	19
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	19
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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	18
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	18
Issue Information	18
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency	17
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	17
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	17
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches	17
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective	17
Correction to “Revisiting the Genetics of Hypophosphatasia”	17
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	16
Gene therapy for mitochondrial disorders	16
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	16
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	16
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	16
Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Eliminati	15
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	15
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders	15
Aminoacyl‐ tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies	15
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders	15
Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure	15
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta‐Analysis	15
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa−/− mice	15
Letter to the editor in response to Betzler et al.	14
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study	14
Issue Information	14
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	14
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate	14
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Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency	13
Conserved quality control mechanisms of mitochondrial protein import	13
Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria	13
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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
Gene expression changes in Tay–Sachs disease begin early in fetal brain development	12

Personalized Genotype‐Based Approach for Treatment of Phenylketonuria	12
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On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies	12
Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease	12
The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation‐Wide Study	12
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders	12
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease	12
Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis	12
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders	11
Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders	11
In Memoriam Douglas S. Kerr	11
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SSIEM 2022 Annual Symposium in Freiburg, Germany	11
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model	11
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders	10
Clinical Implications of Studying the Coupled Reaction of Phenylalanine Hydroxylase In Vitro and In Vivo	10
From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D‐Bifunctional Protein Deficiency in a Multicentre International Case Series	10
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	10
Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy	10
Trial Readiness: Understanding the Natural History of Rare Diseases	10
Gene therapy for glycogen storage diseases	10
Corrigendum	10
Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product	10
Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity	10
Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach	10
Issue Information	9
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients	9
A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women	9
Information Theory Analysis of CTX Shows Consistent Clinical Presentation	9
News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders	9
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency	9
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long‐Chain Fatty Acid Oxidation Disorders	9
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Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism	9
Patterns of Penetrance and Expressivity of Long‐Term Outcomes in Classic Galactosemia	9
Neurologic outcome following liver transplantation for methylmalonic aciduria	8
Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening	8
Issue Information	8
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	8
Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies	8
Issue Information	8
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	8
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt	8
Obituary: William L. Nyhan, MD , PhD . (1926–2026)	8
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	8
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Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials	8
Issue Information	8
Professor Ewa Pronicka Obituary	8
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	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
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Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis	8
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	8
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	8
Neurotransmitters … it is all about communication!	7
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	7
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	7
Response to Downie et al.	7
Therapies for Mitochondrial Disease: Past, Present, and Future	7
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals	7
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	7
Myo‐Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI	7
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort S tudy	7
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	7
Real‐Life Application of a Point‐of‐Care Biosensor for Phenylalanine in Patients With Phenylketonuria	7
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia	7
Real‐World Migalastat Use in Fabry Disease: Comparative Insights From the Pisani and Hughes Studies	7
Beyond neuropsychological tests: AI speech analysis in PKU	7
Issue Information	7
Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review	7
Abstracts	7
Multimodal Noninvasive Biomarker Characterization of Structural and Functional Alterations in ADSS1 ‐Deficient Myopathy	7
Factors affecting activities of daily living among patients with Wilson disease	7
Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X‐Linked Adrenoleukodystrophy	7
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism	6
Mitochondrial membrane synthesis, remodelling and cellular trafficking	6
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real‐world cohort of patients with Wilson disease	6
Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients	6
Pregnancies in Women With Long‐Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey	6

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking	6
What can pediatricians learn from adult inherited metabolic diseases?	6
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1H HR‐MAS NMR	6
Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria	6
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency	6
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update	6
Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease	6
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease	6
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care	6
Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease	6
Organoids for Metabolic Disease Modeling	6
Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model	6
Issue Information	6
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!	6
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism	6
The Therapeutic Future for Congenital Disorders of Glycosylation	6
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias	6
The History and Nosology of the Glycine Disorders: A Framework for Clinicians	6
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria	6
ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes	6
Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X‐Linked Adrenoleukodystrophy	6
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria	6
Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders	6
From skin lesions to tyrosinemia type II diagnosis	5
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Abstracts	5
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency	5
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes	5
EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms	5
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry	5
Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism	5
An Automated Analysis Tool for Diffusion Tensor Imaging‐Based Quantitative MRI in X‐Linked Adrenol	5
Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency	5
The complex machinery of human cobalamin metabolism	5
Issue Information	5
Correction to Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	5
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG)	5
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning	5
Correction to “Comparative Analysis of Gene and Disease Selection in Genomic Newborn Screening Studies”	5
Erratum	5
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1	5
N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts	5
Issue Information	5
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Risk and potential of ChatGPT in scientific publishing	5
Epidemiology and economic burden of Wilson disease in France: A nationwide population‐based study	5
Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies	4
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT	4
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries	4
The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside	4
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey	4
Obituary for Dr. Lawrence “Larry” Sweetman, PhD, ABMG (1942–2022)	4
Correction to “Clinical presentation of 13 children with alkaptonuria”	4
Adenosine Kinase: An Epigenetic Modulator and Drug Target	4
Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study	4
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations	4
Issue Information	4
Disorders of fatty acid homeostasis	4
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data	4
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐ IT on cognitive function in siblings with neuronopathic mucop	4
Human genetic defects of sphingolipid synthesis	4
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2	4
Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals	4
Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency	4
Erratum	4
Genetic aetiologies of acute liver failure	4
Citrin deficiency—The East‐side story	4
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities	4
ARSA Variants Associated With Cognitive Decline and Long‐Term Preservation of Motor Function in Metachromatic Leukodystrophy	4
Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris	4
From Justification to Legitimacy: A Deliberative Framework for Decisions Around Expensive Drugs for Rare Diseases	4
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up	4
Global Access to IMD Drugs: Bridging the Gap Between High‐Income Countries and Latin America	4
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Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG	3
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency	3
Issue Information	3
Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria	3
New insights into the pathophysiology of methylmalonic acidemia	3
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors	3
Signal Peptide Engineering and Codon Optimization to Enhance α‐Gal A Activity for rAAV Gene Therapy of Fabry Disease	3
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases	3
Health and well‐being of maturing adults with classic galactosemia	3
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission	3
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder	3
Issue Information	3
The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives	3
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders	3
Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real‐World Matched Cohort Study	3
Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From	3
Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein‐Deficient Mice and Human Fibroblasts	3
iPSC ‐Derived Liver Organoids as a Tool to Study Medium Chain Acyl‐ CoA Dehydrogenase Deficiency	3
Kidney urinary biomarkers in patients with branched‐chain amino acid and cobalamin metabolism defects	3
Diagnostic Accuracy of Exchangeable Copper for Grading the Severity of Wilson Disease	3
CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation	3