Journal of Inherited Metabolic Disease

Article	Citations
Global loss of bone, muscle, and fat mass in a patient with juvenile Paget disease (hereditary hyperphosphatasia)	53
Experimental models of Barth syndrome	49
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (<	47
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	46
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant	39
Issue Information	38
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series	37
Increased neurotoxicity of high‐density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very‐long‐chain fatty acid transporter Abcd1	34
Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease	32
Regulatory news: Olipudase alfa‐rpcp (Xenpozyme™) for treatment of non‐central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric pat	30
Issue Information	29
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders	28
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	27
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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age	24
Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium‐Chain Acyl‐CoA dehydrogenase deficiency	23
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Issue Information	22
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I	22
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry	21
Issue Information	21
Issue Information	21
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	20
Delineating the epilepsy phenotype of NGLY1 deficiency	20
Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism	20

Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt	19
Pregnancy in cystinosis patients with chronic kidney disease: A European case series	19
Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening	19
Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease	19
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	18
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease	17
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	17
Clinical presentation and natural history of Barth Syndrome: An overview	16
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“East meets West”: SSIEM 2023 Annual Symposium at Jerusalem	16
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases	16
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi‐Bickel syndrome with empagliflozin	16
Exploring genotype–phenotype correlations in glutaric aciduria type 1	15
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5	15
Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy	15
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria	15
Erratum	14
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	14
Therapeutic liver cell transplantation to treat murine PKU	14
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency	14
Correction to “Clinical presentation of 13 children with alkaptonuria”	14
Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes	14
Erratum	14
Genetic aetiologies of acute liver failure	13
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression	13
Issue Information	13
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey	13
Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism	13
International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy	13
Effectiveness of Kidney Transplantation in Treating Alkaptonuric Skin Ochronosis	13
Gene therapy for neurotransmitter‐related disorders	13
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder	13
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate	13
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia	12
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	12
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	12
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision	12
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study	12
Neurologic outcome following liver transplantation for methylmalonic aciduria	12
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy	12
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	12
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental	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	11
High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study	11
Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms	11
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria	11
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	11
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	11
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience	11
Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency	11

Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders	11
Human genetic defects of sphingolipid synthesis	11
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	11
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease	11
The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders	11
Long‐term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II	11
The therapeutic landscape of citrin deficiency	11
Organic acidurias: Ingredients for precision medicine	10
Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease	10
Issue Information	10
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Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II	10
In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930–2023)	10
Obituary for Professor David Julian Timson, PhD	9
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency	9
Abstracts	9
Expression and function of the urea cycle in widely‐used hepatic cellular models	9
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment	9
Cellular and computational models reveal environmental and metabolic interactions in MMUT‐type methylmalonic aciduria	9
Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients	9
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Potential therapeutic uses of L‐citrulline beyond genetic urea cycle disorders	9
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data	9
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	9
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia	9
CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders	9
Quo vadis ureagenesis disorders? A journey from 90 years ago into the future	9
Clinical pharmacology considerations for first‐in‐human clinical trials for enzyme replacement therapy	8
Mucopolysaccharidoses type I gene therapy	8
Ornithine transcarbamylase deficiency: A diagnostic odyssey	8
Barth Syndrome Foundation: From humble beginnings to becoming an integral partner	8
Issue Information	8
Correction to “Isolated remethylation disorders: Do our treatments benefit patients?”	8
Disease models of Leigh syndrome: From yeast to organoids	8
Obituary for Dr. Lawrence “Larry” Sweetman, PhD, ABMG (1942–2022)	8
Obituary for Claude Bachmann, MD (1941–2022)	8
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia	8
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia	8
Altered neural oscillations in classical galactosaemia during sentence production	8
Inborn errors of metabolism and their impact in paediatric dentistry	8
Issue Information	8
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach	7
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	7
Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes	7
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1	7
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program	7
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency	7
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management	7
Spermidine Treatment Improves GRIN2B Loss‐Of‐Function, A Primary Disorder of Glutamatergic Neurotransmission	7
A new D‐galactose treatment monitoring index for PGM1‐CDG	7
Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives	7
Biomarkers for drug development in propionic and methylmalonic acidemias	7
β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency	7
Neurotransmitters … it is all about communication!	7
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard	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
MPS I: Early diagnosis, bone disease and treatment, where are we now?	7
Liver‐directed gene therapy for inherited metabolic diseases	7
The doxycycline paradox in primary mitochondrial diseases	7
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Abstracts	7
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The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases	7
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	7
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study	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
Mission possible: Gene therapy for inherited metabolic diseases	6
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands	6
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients	6
Congenital disorders of glycosylation with defective fucosylation	6
Citrin deficiency—The East‐side story	6
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio	6
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan	6
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition	6
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells	6
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	6
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model	6
Advances in therapies for neurological lysosomal storage disorders	6
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency	6

Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	6
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	6
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia	6
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children	6
Beyond neuropsychological tests: AI speech analysis in PKU	5
Long‐term neurodevelopmental outcomes following liver transplantation for metabolic disease‐a single centre experience	5
Development of a novel tool for individual treatment trials in mucopolysaccharidosis	5
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy	5
Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect	5
Disorders of fatty acid homeostasis	5
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities	5
Issue Information	5
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells	5
Obituary for Professor Michael Beck (1947–2022)	5
Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium	5
Diffusion tensor imaging with free‐water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I	5
Current and future treatment approaches for Barth syndrome	5
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The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside	5
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	5
Obituary for Prof. Alberto Ponzone	5
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein	5
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	5
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German‐speaking countries	5
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey	5
New insights into the pathophysiology of methylmalonic acidemia	4
Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1tm1Kds mice and X‐linked adrenoleukodystrophy patients	4
Acyl‐CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism	4
A diagnostic confidence scheme for CLN3 disease	4
Issue Information	4
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I	4
Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant	4
Obituary for Dr. Brian H. Robinson, PhD	4
Recovery of enzyme activity in biotinidase deficient individuals during early childhood	4
Is it time to start to consider treating the liver in glutaric aciduria type 1?	4
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up	4
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Beyond genetics: Deciphering the impact of missense variants in CAD deficiency	4
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Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease	4
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Quo vadis now: Beyond genomics to an era of personalised medicine	4
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa−/− mice	4
Factors affecting activities of daily living among patients with Wilson disease	4
Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia	4
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	4
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Gene therapy for urea cycle defects: An update from historical perspectives to future prospects	4
Fatal cervical myelopathy in a child with glutaric aciduria type 1	4
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?	4
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective	3
In memoriam Willy Lehnert	3
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,	3
Lost in translation—Challenges in drug development for inherited metabolic diseases	3
3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism	3
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update	3
Gene therapy for mitochondrial disorders	3
Corrigendum	3
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia	3
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism	3
Metabolic disease in the Pacific: Lessons for indigenous populations	3
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	3
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	3
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria	3
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia	3
Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?	3
Long‐term personalized high‐protein, high‐fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and d	3
Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG	3
Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome	3
Grip strength in patients with galactosemia and in a galactose‐1‐phosphate uridylyltransferase (GALT)‐null rat model	3
Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder	3
A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling	3
Navigating the rare neurotransmitter disease diagnosis: Insights from patients and health care professionals	3
The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease	3
OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort	3
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study	3
Long‐chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy	3
MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration	3
Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy	2
Gene therapies for mucopolysaccharidoses	2
Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease	2
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!	2
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients	2
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria	2
Brain morphometry in hepatic Wilson disease patients	2
Response to Downie et al.	2
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency	2
Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients	2
Biological Basis of Cell Trafficking: A General Overview	2
Ppt1‐deficiency dysregulates lysosomal Ca++ homeostasis contributing to pathogenesis in a mouse model of CLN1 disease	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
Obituary for Professor Ishwar Chander Verma	2
Mitochondrial membrane synthesis, remodelling and cellular trafficking	2
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases	2
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency	2