Journal of Inherited Metabolic Disease

Article	Citations
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	74
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	61
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	55
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	50
Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles	41
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	35
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	33
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	32
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	31
Revisiting the Genetics of Hypophosphatasia	29
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects	29
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases	29
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	28
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	27
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?	27
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	26
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	26
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	25
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Guidelines in the JIMD: Evidence‐based practice for inherited metabolic 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	24
Ornithine transcarbamylase deficiency: A diagnostic odyssey	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
Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC ‐Derived Cardiomyocytes	22

Altered neural oscillations in classical galactosaemia during sentence production	22
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases	22
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	21
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	21
Brain Age in Adult Patients With Early‐Treated Phenylketonuria	21
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	21
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	21
Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I	20
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	20
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia	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
Brain morphometry in hepatic Wilson disease patients	18
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Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study	18
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders	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	18
Issue Information	17
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Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches	17
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	17
Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure	17
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	17
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	17
Correction to “Revisiting the Genetics of Hypophosphatasia”	17
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta‐Analysis	17
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective	16
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency	16
Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Eliminati	16
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	16
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	16
Gene therapy for mitochondrial disorders	15
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	15
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	15
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa−/− mice	15
Aminoacyl‐ tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies	15
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders	15
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	15
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	15
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
Gene expression changes in Tay–Sachs disease begin early in fetal brain development	14
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
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Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency	14
Issue Information	14
On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies	13
Conserved quality control mechanisms of mitochondrial protein import	13
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Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria	13
The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation‐Wide Study	12
Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis	12
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SSIEM 2022 Annual Symposium in Freiburg, Germany	12
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders	12
Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease	12
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	12
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Personalized Genotype‐Based Approach for Treatment of Phenylketonuria	12
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease	12
Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders	12
Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy	11
Trial Readiness: Understanding the Natural History of Rare Diseases	11
Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product	11
In Memoriam Douglas S. Kerr	11
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model	11
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders	11
Clinical Implications of Studying the Coupled Reaction of Phenylalanine Hydroxylase In Vitro and In Vivo	11
Corrigendum	10
Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach	10
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Information Theory Analysis of CTX Shows Consistent Clinical Presentation	10
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders	10
Gene therapy for glycogen storage diseases	10
Issue Information	10
Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity	10
From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D‐Bifunctional Protein Deficiency in a Multicentre International Case Series	10
News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders	10
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency	9
A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women	9
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials	9
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients	9
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism	9
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long‐Chain Fatty Acid Oxidation Disorders	9
Patterns of Penetrance and Expressivity of Long‐Term Outcomes in Classic Galactosemia	9
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency	9
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis	9
Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies	9
Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review	8
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	8
Professor Ewa Pronicka Obituary	8
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort S tudy	8
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	8
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Issue Information	8
Neurologic outcome following liver transplantation for methylmalonic aciduria	8
Obituary: William L. Nyhan, MD , PhD . (1926–2026)	8
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	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
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Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	8
Issue Information	8
Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening	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
Neurotransmitters … it is all about communication!	8
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	8
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	8
Multimodal Noninvasive Biomarker Characterization of Structural and Functional Alterations in ADSS1 ‐Deficient Myopathy	7
Issue Information	7
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	7
Response to Downie et al.	7
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease	7
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism	7
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia	7
Real‐Life Application of a Point‐of‐Care Biosensor for Phenylalanine in Patients With Phenylketonuria	7
Beyond neuropsychological tests: AI speech analysis in PKU	7
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	7
Myo‐Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI	7
The Therapeutic Future for Congenital Disorders of Glycosylation	7
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism	7
Factors affecting activities of daily living among patients with Wilson disease	7
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals	7
Therapies for Mitochondrial Disease: Past, Present, and Future	7
Abstracts	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
Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients	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

Real‐World Migalastat Use in Fabry Disease: Comparative Insights From the Pisani and Hughes Studies

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