Journal of Inherited Metabolic Disease

Article	Citations
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	76
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	59
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	52
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	41
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	39
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	37
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	37
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?	35
Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles	34
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases	34
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	33
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	32
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects	31
Revisiting the Genetics of Hypophosphatasia	31
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	30
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	29
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Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	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	27
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	26
Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC ‐Derived Cardiomyocytes	25
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	25
Altered neural oscillations in classical galactosaemia during sentence production	25
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	25

Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	24
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
Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I	23
Intramolecular Epistatic Interactions in Genetic Diseases	23
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Brain Age in Adult Patients With Early‐Treated Phenylketonuria	23
Natural History of Morquio A Syndrome	23
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	22
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa−/− mice	22
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	22
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective	22
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Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	22
Issue Information	21
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders	21
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency	20
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	20
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	20
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	20
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	20
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	19
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	18
Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease	18
First in Human Gene Editing for an Inherited Metabolic Disease	17
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta‐Analysis	17
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study	17
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	17
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Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	17
Brain morphometry in hepatic Wilson disease patients	17
Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure	17
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders	17
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	17
Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Eliminati	16
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches	16
Aminoacyl‐ tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies	16
Correction to “Revisiting the Genetics of Hypophosphatasia”	16
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Gene therapy for mitochondrial disorders	15
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	14
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate	14
Letter to the editor in response to Betzler et al.	14
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease	14
On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies	14
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders	14
Issue Information	14
Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria	14
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Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency	13
Gene expression changes in Tay–Sachs disease begin early in fetal brain development	13

Personalized Genotype‐Based Approach for Treatment of Phenylketonuria	13
Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis	13
The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation‐Wide Study	13
Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease	13
Conserved quality control mechanisms of mitochondrial protein import	13
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model	12
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders	12
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Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders	12
From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D‐Bifunctional Protein Deficiency in a Multicentre International Case Series	12
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders	12
SSIEM 2022 Annual Symposium in Freiburg, Germany	12
Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy	12
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Clinical Implications of Studying the Coupled Reaction of Phenylalanine Hydroxylase In Vitro and In Vivo	11
In Memoriam Douglas S. Kerr	11
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	11
Trial Readiness: Understanding the Natural History of Rare Diseases	11
Gene therapy for glycogen storage diseases	11
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Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency	10
Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies	10
Patterns of Penetrance and Expressivity of Long‐Term Outcomes in Classic Galactosemia	10
Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach	10
Issue Information	10
Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product	10
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long‐Chain Fatty Acid Oxidation Disorders	10
Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity	10
News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders	10
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism	10
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis	10
Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening	9
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A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women	9
Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I	9
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	9
Professor Ewa Pronicka Obituary	9
Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review	9
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Issue Information	9
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials	9
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	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
Issue Information	9
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	9
Information Theory Analysis of CTX Shows Consistent Clinical Presentation	9
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	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
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	9
Neurologic outcome following liver transplantation for methylmalonic aciduria	9
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort S tudy	8
Beyond neuropsychological tests: AI speech analysis in PKU	8
Therapies for Mitochondrial Disease: Past, Present, and Future	8
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism	8
Mitochondrial membrane synthesis, remodelling and cellular trafficking	8
Obituary: William L. Nyhan, MD , PhD . (1926–2026)	8
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	8
Abstracts	8
Real‐Life Application of a Point‐of‐Care Biosensor for Phenylalanine in Patients With Phenylketonuria	8
Multimodal Noninvasive Biomarker Characterization of Structural and Functional Alterations in ADSS1 ‐Deficient Myopathy	8
Factors affecting activities of daily living among patients with Wilson disease	8
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	8
Neurotransmitters … it is all about communication!	8
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	8
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	8
Myo‐Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI	8
Response to Downie et al.	8
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals	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
Issue Information	8
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!	7
Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients	7
The History and Nosology of the Glycine Disorders: A Framework for Clinicians	7
Correction to “Long‐Term Follow‐Up of Patients With Transaldolase Deficiency”	7
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria	7
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease	7
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1H HR‐MAS NMR	7
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real‐world cohort of patients with Wilson disease	7
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias	7

Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update	7
Real‐World Migalastat Use in Fabry Disease: Comparative Insights From the Pisani and Hughes Studies	7
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria	7
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking	7
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism	7
Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease	7
Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease	7
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency	7
Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X‐Linked Adrenoleukodystrophy	7
Pregnancies in Women With Long‐Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey	7
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care	7
The Therapeutic Future for Congenital Disorders of Glycosylation	7
Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X‐Linked Adrenoleukodystrophy	6
The complex machinery of human cobalamin metabolism	6
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NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment	6
Tri‐Parametric Assessment of α‐Galactosidase A Activity, lysoGb3 and X‐Inactivation Aids Genotype‐Phenotype Categorization of Fabry Disease Female Pa	6
Issue Information	6
ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes	6
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG)	6
What can pediatricians learn from adult inherited metabolic diseases?	6
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1	6
Correction to Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	6
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning	6
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry	6
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes	6
N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts	6
Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders	6
Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency	6
Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria	6
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency	6
EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms	6
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Issue Information	6
Organoids for Metabolic Disease Modeling	6
Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model	6
Risk and potential of ChatGPT in scientific publishing	6
Adenosine Kinase: An Epigenetic Modulator and Drug Target	5
Erratum	5
An Automated Analysis Tool for Diffusion Tensor Imaging‐Based Quantitative MRI in X‐Linked Adrenol	5
Correction to “Comparative Analysis of Gene and Disease Selection in Genomic Newborn Screening Studies”	5
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey	5
From Justification to Legitimacy: A Deliberative Framework for Decisions Around Expensive Drugs for Rare Diseases	5
Correction to “Clinical presentation of 13 children with alkaptonuria”	5
Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals	5
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations	5
Abstracts	5
Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism	5
Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency	5
Human genetic defects of sphingolipid synthesis	5
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2	5
Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies	5
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up	5
Epidemiology and economic burden of Wilson disease in France: A nationwide population‐based study	5
From skin lesions to tyrosinemia type II diagnosis	5
Global Access to IMD Drugs: Bridging the Gap Between High‐Income Countries and Latin America	5
Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study	5
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT	5
Erratum	5
Genetic aetiologies of acute liver failure	5
Liver‐directed gene therapy for inherited metabolic diseases	4
Disorders of fatty acid homeostasis	4
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders	4
ARSA Variants Associated With Cognitive Decline and Long‐Term Preservation of Motor Function in Metachromatic Leukodystrophy	4
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In memoriam Willy Lehnert	4
Long‐Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II	4
Diagnostic Accuracy of Exchangeable Copper for Grading the Severity of Wilson Disease	4
Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG	4
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders	4
Citrin deficiency—The East‐side story	4
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency	4
Obituary for Dr. Lawrence “Larry” Sweetman, PhD, ABMG (1942–2022)	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
Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Re	4
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	4
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples	4
Issue Information	4
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors	4
Gene therapies for mucopolysaccharidoses	4
Age‐Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria	4
Fatal cervical myelopathy in a child with glutaric aciduria type 1	4
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries	4
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities	4
The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside	4
Issue Information	4
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data	4
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The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives	4
Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real‐World Matched Cohort Study	4
Liver‐Directed Gene Therapy Mitigates Early Nephropathy in Murine Glycogen Storage Disease Type Ia	4
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults	4
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐ IT on cognitive function in siblings with neuronopathic mucop	4
Phosphoribosylformylglycinamidine Synthase ( PFAS ) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine	4
CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation	3