Journal of Inherited Metabolic Disease

Article	Citations
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	154
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	39
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	39
High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study	37
Human genetic defects of sphingolipid synthesis	34
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	33
Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long‐term management of patie	29
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	28
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	26
Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency	25
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	24
Experimental models of Barth syndrome	24
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental	24
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021	22
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder	22
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	21
Issue Information	21
Issue Information	20
Increased neurotoxicity of high‐density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very‐long‐chain fatty acid transporter Abcd1	20
Issue Information	20
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	20
Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease	19
Issue Information	18
Regulatory news: Olipudase alfa‐rpcp (Xenpozyme™) for treatment of non‐central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric pat	18
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age	17

A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders	17
No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo‐controlled cross‐over study	17
Editorial: Mitochondrial medicine special issue	17
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Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study	16
Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium‐Chain Acyl‐CoA dehydrogenase deficiency	16
Issue Information	15
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Genetic aetiologies of acute liver failure	15
Issue Information	14
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	14
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression	14
Obituary	13
Delineating the epilepsy phenotype of NGLY1 deficiency	13
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry	13
Issue Information	13
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency	13
Gene therapy for neurotransmitter‐related disorders	13
Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long‐chain fatty acid oxidation disorders: FDA approval summary	13
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (<	13
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	12
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT	12
Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism	12
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	12
Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening	12
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	12
Effectiveness of Kidney Transplantation in Treating Alkaptonuric Skin Ochronosis	12
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy	12
Pregnancy in cystinosis patients with chronic kidney disease: A European case series	11
Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism	11
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	11
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt	11
Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood‐testis barrier and a subtherapeutic effect of cysteamine in testis	11
Neurologic outcome following liver transplantation for methylmalonic aciduria	11
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	11
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	11
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	11
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia	10
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi‐Bickel syndrome with empagliflozin	10
“East meets West”: SSIEM 2023 Annual Symposium at Jerusalem	10
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases	10
Clinical presentation and natural history of Barth Syndrome: An overview	10
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Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	10
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision	9
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey	9
Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes	9
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision	9
Correction to “Clinical presentation of 13 children with alkaptonuria”	9
Exploring genotype–phenotype correlations in glutaric aciduria type 1	9

Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	9
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model	9
The therapeutic landscape of citrin deficiency	9
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	9
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5	9
Erratum	9
Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy	9
Therapeutic liver cell transplantation to treat murine PKU	9
Erratum	9
International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy	9
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria	9
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Organic acidurias: Ingredients for precision medicine	8
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard	8
Correction to “Isolated remethylation disorders: Do our treatments benefit patients?”	8
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan	8
In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930–2023)	8
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Mission possible: Gene therapy for inherited metabolic diseases	8
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia	8
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	8
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data	8
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells	8
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	8
Issue Information	8
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II	8
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia	8
Cellular and computational models reveal environmental and metabolic interactions in MMUT‐type methylmalonic aciduria	8
Liver‐directed gene therapy for inherited metabolic diseases	8
Hand fine motor control in classic galactosemia	7
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Ornithine transcarbamylase deficiency: A diagnostic odyssey	7
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency	7
Creatine transport and pathological changes in creatine transporter deficient mice	7
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	7
Issue Information	7
Issue Information	7
Obituary for Claude Bachmann, MD (1941–2022)	7
CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders	7
Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease: Results from a randomized, placebo‐controlled, double‐blind, cross‐over study	7
Barth Syndrome Foundation: From humble beginnings to becoming an integral partner	7
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Obituary for Dr. Lawrence “Larry” Sweetman, PhD, ABMG (1942–2022)	7
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency	7
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	7
Inborn errors of metabolism and their impact in paediatric dentistry	7
Abstracts	6
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach	6
Altered neural oscillations in classical galactosaemia during sentence production	6
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands	6
Neurotransmitters … it is all about communication!	6
A new D‐galactose treatment monitoring index for PGM1‐CDG	6
Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients	6
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	6
Congenital disorders of glycosylation with defective fucosylation	6
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases	6
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	6
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	6
The doxycycline paradox in primary mitochondrial diseases	6
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 treatment	6
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	6
Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes	6
Abstracts	6
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency	6
Quo vadis ureagenesis disorders? A journey from 90 years ago into the future	5
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia	5
β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency	5
Biomarkers for drug development in propionic and methylmalonic acidemias	5
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio	5
Current and future treatment approaches for Barth syndrome	5
Citrin deficiency—The East‐side story	5
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition	5
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program	5
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy	5
Obituary for Professor David Julian Timson, PhD	5
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children	5
Mucopolysaccharidoses type I gene therapy	5
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment	5
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	5

Advances in therapies for neurological lysosomal storage disorders	5
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management	5
In a mouse model of INCL reduced S‐palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation	5
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study	5
MPS I: Early diagnosis, bone disease and treatment, where are we now?	5
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells	5
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients	5
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience	5
Issue Information	4
Obituary for Prof. Alberto Ponzone	4
The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside	4
Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium	4
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	4
Disease models of Leigh syndrome: From yeast to organoids	4
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey	4
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Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates	4
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	4
Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives	4
Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect	4
Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	4
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries	4
Disorders of fatty acid homeostasis	4
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	4
Beyond neuropsychological tests: AI speech analysis in PKU	4
Obituary for Professor Michael Beck (1947–2022)	4
Diffusion tensor imaging with free‐water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I	4
Assessment of Long‐Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo‐Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Mode	4
Long‐term neurodevelopmental outcomes following liver transplantation for metabolic disease‐a single centre experience	4
Expression and function of the urea cycle in widely‐used hepatic cellular models	4
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	4
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities	4
Fatal cervical myelopathy in a child with glutaric aciduria type 1	3
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I	3
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Is it time to start to consider treating the liver in glutaric aciduria type 1?	3
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	3
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real‐world cohort of patients with Wilson disease	3
A diagnostic confidence scheme for CLN3 disease	3
Quo vadis now: Beyond genomics to an era of personalised medicine	3
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The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein	3
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Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa−/− mice	3
Factors affecting activities of daily living among patients with Wilson disease	3
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia	3
Acyl‐CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism	3
Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1tm1Kds mice and X‐linked adrenoleukodystrophy patients	3
Obituary for Dr. Brian H. Robinson, PhD	3
Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant	3
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	3
Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease	3
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	3
New insights into the pathophysiology of methylmalonic acidemia	3
Gene therapy for mitochondrial disorders	3
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up	3
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders	3
Issue Information	3
Lost in translation—Challenges in drug development for inherited metabolic diseases	3
Gene therapy for urea cycle defects: An update from historical perspectives to future prospects	3
Ppt1‐deficiency dysregulates lysosomal Ca++ homeostasis contributing to pathogenesis in a mouse model of CLN1 disease	3
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease	2
3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism	2
Barbara Maria Cabalska, Professor Emeritus at the Institute of Mother and Child, Warsaw, Poland (born: Warsaw, Poland, October 19, 1927; MD Warsaw Medical Academy; deceased: Warsaw, Poland,	2
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia	2
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples	2
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	2
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias	2
Mitochondrial membrane synthesis, remodelling and cellular trafficking	2
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!	2
Response to Downie et al.	2
Brain morphometry in hepatic Wilson disease patients	2
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria	2
Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease	2
Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder	2
Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy	2
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia	2
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	2
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency	2
Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease	2
Obituary for Professor Ishwar Chander Verma	2
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	2
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	2
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update	2
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency	2
Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome	2
A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling	2
Gene therapies for mucopolysaccharidoses	2
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	2
Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients	2
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients	2
Executive and adaptive function impacts long‐term outcomes for adults with maple syrup urine disease	2
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	2
Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐CoA Hydratase 1 (ECHS1) Deficiency	2