Journal of Inherited Metabolic Disease

Article	Citations
An international classification of inherited metabolic disorders (ICIMD)	178
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision	146
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency	50
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines	46
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran	39
Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients	37
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision	36
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	34
Inborn disorders of the malate aspartate shuttle	33
Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria	29
Clinical presentation and natural history of Barth Syndrome: An overview	28
High dose genistein in Sanfilippo syndrome: A randomised controlled trial	26
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques	25
Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease	24
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency	23
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis	23
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach	22
GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes	22
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria	22
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5	21
Current progress with mammalian models of mitochondrialDNAdisease	21
Biomarkers for drug development in propionic and methylmalonic acidemias	21
Current and future treatment approaches for Barth syndrome	20
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria	20
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	20

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata	20
Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan	19
Advances in therapies for neurological lysosomal storage disorders	19
Acute intermittent porphyria, givosiran, and homocysteine	19
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan	19
In a mouse model of INCL reduced S‐palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation	18
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients	18
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management	18
Inherited disorders of complex lipid metabolism: A clinical review	17
Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells	17
Genomic newborn screening: Are we entering a new era of screening?	17
Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan	16
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells	16
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis	15
CDG or not CDG	15
Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study	15
Molybdenum cofactor deficiency: A natural history	15
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study	15
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein	14
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients	14
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism	14
Exploring genotype–phenotype correlations in glutaric aciduria type 1	14
The potential of dietary treatment in patients with glycogen storage disease type IV	13
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio	13
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland	13
Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome	13
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment	13
Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy	13
B‐complex vitamins for patients with TANGO2‐deficiency disorder	13
Congenital disorders of glycosylation with defective fucosylation	13
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia	13
ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes	12
OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort	12
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells	12
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net	12
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy	12
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	12
Long‐chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy	12
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study	12
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency	11
The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery	11
A new D‐galactose treatment monitoring index for PGM1‐CDG	11
N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts	11
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	11
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I	11
Experimental models of Barth syndrome	11
Impaired Very‐Low‐Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia	11
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia	11
Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency	11
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	11

The mitochondria‐targeted hydrogen sulfide donor AP39 improves health and mitochondrial function in a C. elegans primary mitochondrial disease model	11
Use of an adeno‐associated virus serotype Anc80 to provide durable cure of phenylketonuria in a mouse model	10
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria	10
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	10
Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges	10
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	10
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	10
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects	10
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	10
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up	10
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial	9
Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association	9
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1	9
Competitive, multi‐objective, and compartmented Flux Balance Analysis for addressing tissue‐specific inborn errors of metabolism	9
Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening	9
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder	9
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency	9
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome	9
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches	9
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	9
Delineating the epilepsy phenotype of NGLY1 deficiency	9
How longitudinal observational studies can guide screening strategy for rare diseases	9
EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms	9
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency	9
Validation of a targeted metabolomics panel for improved second‐tier newborn screening	9
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia	9
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia	9
Creatine transport and pathological changes in creatine transporter deficient mice	8
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding	8
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit	8
Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy	8
Genomic newborn screening: Proposal of a two‐stage approach	8
In vitro functional analysis of four variants of human asparagine synthetase	8
ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes	8
Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1tm1Kds mice and X‐linked adrenoleukodystrophy patients	8
MPS I: Early diagnosis, bone disease and treatment, where are we now?	8
Neurologic outcome following liver transplantation for methylmalonic aciduria	8
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures	8
The role and control of arginine levels in arginase 1 deficiency	8
Gene therapy for glycogen storage diseases	8
Metabolic impact of pathogenic variants in the mitochondrial glutamyl‐tRNA synthetase EARS2	8
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples	8
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency	8
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children	8
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia	8
The complex machinery of human cobalamin metabolism	8
Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death	8
Long‐term functional correction of cystathionine β‐synthase deficiency in mice by adeno‐associated viral gene therapy	8
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency	8
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings	7
Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias	7
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa−/− mice	7
Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty‐seven patients with alkaptonuria	7
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age	7
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up	7
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG	7
Interplay between cardiolipin and plasmalogens in Barth syndrome	7
The nucleotide prodrug CERC‐913 improves mtDNA content in primary hepatocytes from DGUOK‐deficient rats	7
Gene therapy for urea cycle defects: An update from historical perspectives to future prospects	7
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?	7
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt	7
Regulatory news: Nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A: FDA approval summary	7
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience	7
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa	7
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening	7
Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium	7
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry	7
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases	7
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil	7
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines	7
Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019	6
Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria	6
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC‐E1 structure and function	6
Liver directed adeno‐associated viral vectors to treat metabolic disease	6
3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism	6
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands	6
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency	6
Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism	6
Fetal gene therapy	6
Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals	6

New insights into the pathophysiology of methylmalonic acidemia	6
Ppt1‐deficiency dysregulates lysosomal Ca++ homeostasis contributing to pathogenesis in a mouse model of CLN1 disease	6
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	6
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	6
Mechano‐energetic aspects of Barth syndrome	6
Therapeutic potential of deuterium‐stabilized (R)‐pioglitazone—PXL065—for X‐linked adrenoleukodystrophy	6
Postauthorization safety study of betaine anhydrous	6
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	6
The role of orotic acid measurement in routine newborn screening for urea cycle disorders	6
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients	6
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders	5
Liver‐directed gene therapy for inherited metabolic diseases	5
A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome	5
Gene therapy for neurotransmitter‐related disorders	5
Deep brain stimulation and intrathecal/intraventricular baclofen for glutaric aciduria type 1: A scoping review, individual patient data analysis, and clinical trials review	5
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria	5
A promoter variant in theOTCgene associated with late and variable age of onset hyperammonemia	5
Mucopolysaccharidoses type I gene therapy	5
Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency	5
How guideline development has informed clinical research for organic acidurias (et vice versa)	5
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment	5
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism	5
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study	5
Is SGSH heterozygosity a risk factor for early‐onset neurodegenerative disease?	5
Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria	5
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	5
Biochemical signatures of disease severity in multiple sulfatase deficiency	5
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data	5
Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia	5
Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long‐chain fatty acid oxidation disorders: FDA approval summary	5
Evolution of adrenoleukodystrophy model systems	5
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	5
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders	5
Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy	5
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency	5
No effect of resveratrol in patients with mitochondrial myopathy: A cross‐over randomized controlled trial	4
Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures	4
Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy	4
Regulatory news: Avalglucosidase alfa‐ngpt (Nexviazyme) for late‐onset Pompe disease—FDA approval summary	4
Gene therapies for mucopolysaccharidoses	4
Recovery of enzyme activity in biotinidase deficient individuals during early childhood	4
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model	4
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	4
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning	4
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA	4
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders	4
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency	4
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188 patients	4
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program	4
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	4
Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study	4
Research priorities for mitochondrial disorders: Current landscape and patient and professional views	4
Integrative omics approaches to advance rare disease diagnostics	4
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	4
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency	4
Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease	4
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	4
Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism	4
Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients	3
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening	3
Pregnancy in cystinosis patients with chronic kidney disease: A European case series	3
Disease models of mitochondrial aminoacyl‐tRNA synthetase defects	3
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening	3
Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?	3
Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry disease	3
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels	3
Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation	3
A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling	3
Expression and function of the urea cycle in widely‐used hepatic cellular models	3
Cellular and computational models reveal environmental and metabolic interactions in MMUT‐type methylmalonic aciduria	3
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism	3
Editorial: Mitochondrial medicine special issue	3
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation	3
Clinical presentation of 13 children with alkaptonuria	3
Risk of postpartum hemorrhage in multiparous women with Gaucher disease: A call for reconsidering enzyme replacement therapy in all pregnant patients	3
Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study	3
Is the brain involved in patients with late‐onset Pompe disease?	3
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias	3
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real‐world cohort of patients with Wilson disease	3
Hand fine motor control in classic galactosemia	3
Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study	3
CHIP control degradation of mutant ETF:QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency	3
Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10‐year prospective study	3
Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling	3
Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?	3
Development of precision therapies for rare inborn errors of metabolism: Functional investigations in cell culture models	3
On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies	3
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway	3
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment	3
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1	3
Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism	2
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental	2
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT	2
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression	2
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency	2