Journal of Inherited Metabolic Disease

Article	Citations
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	61
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	53
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	43
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	40
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases	34
Nitrogen Scavengers: History, Clinical Considerations and Future Prospects	33
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	32
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	31
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	31
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	30
Revisiting the Genetics of Hypophosphatasia	29
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	27
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	26
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	26
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	23
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	23
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AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	21
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	21
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	20
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	20
Inborn errors of metabolism and their impact in paediatric dentistry	20
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	19
Intramolecular Epistatic Interactions in Genetic Diseases	19
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	19

Ornithine transcarbamylase deficiency: A diagnostic odyssey	19
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	19
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	19
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases	18
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	18
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model	18
Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC ‐Derived Cardiomyocytes	18
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	17
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective	17
First in Human Gene Editing for an Inherited Metabolic Disease	17
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	17
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Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study	17
Altered neural oscillations in classical galactosaemia during sentence production	17
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia	17
Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5‐Anhydroglucitol	17
Brain morphometry in hepatic Wilson disease patients	17
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches	16
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	16
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	16
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders	16
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta‐Analysis	16
Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease	16
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The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	16
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency	16
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	15
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa−/− mice	15
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	15
Issue Information	15
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	15
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	15
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	15
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	15
Gene therapy for mitochondrial disorders	14
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency	14
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders	14
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Performance of Relative Exchangeable Copper for the Diagnosis of Wilson Disease in Acute Liver Failure	14
Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease	14
Gene expression changes in Tay–Sachs disease begin early in fetal brain development	13
On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies	13
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Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria	13
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate	13
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	13
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The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation‐Wide Study	13
Conserved quality control mechanisms of mitochondrial protein import	13
Letter to the editor in response to Betzler et al.	13

Personalized Genotype‐Based Approach for Treatment of Phenylketonuria	13
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Obituary for Charles Rider Roe, MD	13
Issue Information	13
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders	13
Corrigendum	12
In Memoriam Douglas S. Kerr	12
Patient‐initiated conference focuses on bridging gaps between patients, clinicians and scientists in the field of rare neurotransmitter‐related disorders	12
Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real‐World Data Approach	12
SSIEM 2022 Annual Symposium in Freiburg, Germany	12
Issue Information	12
Gene therapy for glycogen storage diseases	12
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	11
Inborn Errors of Cell Trafficking and Complex Lipids: A Further Step in Redefining Hereditary Metabolic Disorders	11
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome	11
Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l‐amino acid‐based product	11
Postauthorization safety study of betaine anhydrous	11
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism	11
Trial Readiness: Understanding the Natural History of Rare Diseases	11
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency	10
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Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients	10
Issue Information	10
Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy	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	10
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	10
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Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	9
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	9
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil	9
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis	9
Patterns of Penetrance and Expressivity of Long‐Term Outcomes in Classic Galactosemia	9
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	9
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	9
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long‐Chain Fatty Acid Oxidation Disorders	9
Information Theory Analysis of CTX Shows Consistent Clinical Presentation	9
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Neurologic outcome following liver transplantation for methylmalonic aciduria	9
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism	9
Issue Information	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
Myo‐Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study	8
Therapies for Mitochondrial Disease: Past, Present, and Future	8
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	8
Issue Information	8
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	8
Issue Information	8
Abstracts	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
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	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
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease	7
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency	7
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real‐world cohort of patients with Wilson disease	7
Real‐World Migalastat Use in Fabry Disease: Comparative Insights From the Pisani and Hughes Studies	7
Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease	7
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia	7
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals	7
Factors affecting activities of daily living among patients with Wilson disease	7
Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher Disease	7
Issue Information	7
Mitochondrial membrane synthesis, remodelling and cellular trafficking	7
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care	7
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update	7
Beyond neuropsychological tests: AI speech analysis in PKU	7
Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients	7
Response to Downie et al.	7
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!	7
The Therapeutic Future for Congenital Disorders of Glycosylation	7
Review of the book “Vademecum Metabolicum, fifth edition”	7
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism	7
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism	7
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias	7
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	7
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1H HR‐MAS NMR	6
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria	6

Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria	6
Risk and potential of ChatGPT in scientific publishing	6
The complex machinery of human cobalamin metabolism	6
Issue Information	6
Correction to Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	6
ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes	6
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking	6
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria	6
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG)	6
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA	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
Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model	6
What can pediatricians learn from adult inherited metabolic diseases?	6
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EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms	6
Issue Information	6
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency	6
Abstracts	5
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Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings	5
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Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations	5
From skin lesions to tyrosinemia type II diagnosis	5
Correction to “Clinical presentation of 13 children with alkaptonuria”	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
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures	5
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1	5
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning	5
Epidemiology and economic burden of Wilson disease in France: A nationwide population‐based study	5
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes	5
Erratum	5
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders	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
N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts	5
Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency	5
Erratum	5
Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism	5
Adenosine Kinase: An Epigenetic Modulator and Drug Target	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
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy	5
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐ IT on cognitive function in siblings with neuronopathic mucop	4
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach	4
Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation	4
Human genetic defects of sphingolipid synthesis	4
Issue Information	4
Genetic aetiologies of acute liver failure	4
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries	4
Issue Information	4
Disorders of fatty acid homeostasis	4
Liver‐directed gene therapy for inherited metabolic diseases	4
The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside	4
Obituary for Dr. Lawrence “Larry” Sweetman, PhD, ABMG (1942–2022)	4
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2	4
ARSA Variants Associated With Cognitive Decline and Long‐Term Preservation of Motor Function in Metachromatic Leukodystrophy	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
Issue Information	4
Citrin deficiency—The East‐side story	4
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Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands	4
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data	4
Obituary for Claude Bachmann, MD (1941–2022)	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
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities	4
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency	4
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Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia	4
Issue Information	3
Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria	3
Kidney urinary biomarkers in patients with branched‐chain amino acid and cobalamin metabolism defects	3
Is the brain involved in patients with late‐onset Pompe disease?	3
Gene therapies for mucopolysaccharidoses	3
Liver‐Directed Gene Therapy Mitigates Early Nephropathy in Murine Glycogen Storage Disease Type Ia	3
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples	3
Quo vadis now: Beyond genomics to an era of personalised medicine	3
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors	3
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders	3
Effectiveness of Pyridoxal‐5′‐Phosphate in PNPO Deficiency: A Systematic Review	3
iPSC ‐Derived Liver Organoids as a Tool to Study Medium Chain Acyl‐ CoA Dehydrogenase Deficiency	3
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission	3
The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives	3
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up	3
Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant	3
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency	3
Gene therapy for urea cycle defects: An update from historical perspectives to future prospects	3
Health and well‐being of maturing adults with classic galactosemia	3
Neuronopathic Gaucher disease: Rare in the West, common in the East	3
Intra‐ and extracellular real‐time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study	3
Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG	3
Long‐Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II	3
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In memoriam Willy Lehnert	3
Fatal cervical myelopathy in a child with glutaric aciduria type 1	3
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia	3