Journal of Inherited Metabolic Disease

Article	Citations
An international classification of inherited metabolic disorders (ICIMD)	141
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision	113
Opportunities and challenges for antisense oligonucleotide therapies	80
Developments in the treatment of Fabry disease	75
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients	58
The definition of neuronopathic Gaucher disease	46
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network	45
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency	43
Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study	41
Moving towards clinical trials for mitochondrial diseases	40
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines	39
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation	38
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran	34
Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study	34
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease	33
Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data	33
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease	33
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect	30
Novel therapies for mucopolysaccharidosis type III	29
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise	26
Metabolic basis and treatment of citrin deficiency	25
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut	25
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	25
High dose genistein in Sanfilippo syndrome: A randomised controlled trial	24
Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome	24

Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients	24
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions	24
Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria	24
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management	24
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene	23
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms	23
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria	23
Inborn disorders of the malate aspartate shuttle	22
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency	21
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation	21
Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry	21
RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a r	21
Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients	21
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease	21
AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case	21
Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set	20
Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes	20
Deficiency of 3‐hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting	20
Clinical presentation and natural history of Barth Syndrome: An overview	20
Current progress with mammalian models of mitochondrial DNA disease	19
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia	19
Nitisinone causes acquired tyrosinosis in alkaptonuria	19
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata	19
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques	18
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision	18
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis	18
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease	18
Biomarkers for drug development in propionic and methylmalonic acidemias	18
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria	17
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients	17
Acute intermittent porphyria, givosiran, and homocysteine	17
Deletion of 2‐aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1	16
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach	16
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia	16
Cln1‐mutations suppress Rab7‐RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis	16
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria	16
Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan	16
Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease	16
Is the alpha‐galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review	15
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5	15
Quantitative retrospective natural history modeling for orphan drug development	15
Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study	15
GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes	15
Long term outcome of MPI‐CDG patients on D‐mannose therapy	15
Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid‐deficient mice	14
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan	14
Current and future treatment approaches for Barth syndrome	14
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism	13
Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders	13
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management	13

Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles	13
Inherited disorders of complex lipid metabolism: A clinical review	13
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients	13
A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency	13
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study	13
In a mouse model of INCL reduced S‐palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation	13
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature	12
Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells	12
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis	12
Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic cop	12
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐	12
Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency	12
A retrospective study of adult patients with noncirrhotic hyperammonemia	12
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies	12
Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy	12
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein	12
The potential of dietary treatment in patients with glycogen storage disease type IV	11
Impaired Very‐Low‐Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia	11
Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study	11
Developments in evidence creation for treatments of inborn errors of metabolism	11
Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan	11
Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency	11
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia	10
A new D‐galactose treatment monitoring index for PGM1‐CDG	10
Molybdenum cofactor deficiency: A natural history	10
The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery	10
Advances in therapies for neurological lysosomal storage disorders	10
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	10
Impact of enteral arginine supplementation on lysine metabolism in humans: A proof‐of‐concept for lysine‐related inborn errors of metabolism	10
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I	10
Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes	10
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	10
Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study	10
The mitochondria‐targeted hydrogen sulfide donor AP39 improves health and mitochondrial function in a C. elegans primary mitochondrial disease model	9
Long‐chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy	9
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment	9
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency	9
OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort	9
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	9
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects	9
ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes	9
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio	9
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	9
Use of an adeno‐associated virus serotype Anc80 to provide durable cure of phenylketonuria in a mouse model	8
Detection of GM1‐gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry	8
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia	8
N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency	8
Experimental models of Barth syndrome	8
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	8
MPS I: Early diagnosis, bone disease and treatment, where are we now?	8
Congenital disorders of glycosylation with defective fucosylation	8
Exploring genotype–phenotype correlations in glutaric aciduria type 1	8
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder	8
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches	8
Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome	8
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia	8
A primer to gene therapy: Progress, prospects, and problems	8
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding	8
LC‐MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies	7
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency	7
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings	7
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	7
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children	7
Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening	7
The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats	7
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil	7
In vitro functional analysis of four variants of human asparagine synthetase	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
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study	7
Delineating the epilepsy phenotype of NGLY1 deficiency	7
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial	7
CDG or not CDG	7
The complex machinery of human cobalamin metabolism	7
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up	7
Creatine transport and pathological changes in creatine transporter deficient mice	7
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish	6
Long‐term functional correction of cystathionine β‐synthase deficiency in mice by adeno‐associated viral gene therapy	6
Is susceptibility to severe COVID‐19 disease an inborn error of metabolism?	6
Cardiac tissue citric acid cycle intermediates in exercised very long‐chain acyl‐CoA dehydrogenase‐deficient mice fed triheptanoin or medium‐chain triglyceride	6
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells	6

Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia	6
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures	6
The role and control of arginine levels in arginase 1 deficiency	6
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency	6
Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias	6
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening	6
Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1tm1Kds mice and X‐linked adrenoleukodystrophy patients	6
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy	6
Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy	6
Newborn screening: To WES or not to WES, that is the question	6
Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria	6
Genomic newborn screening: Proposal of a two‐stage approach	6
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia	6
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa	6
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	6
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?	6
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells	6
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	6
A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection	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
Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism	5
Screening for abnormal glycosylation in a cohort of adult liver disease patients	5
Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia	5
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa	5
Competitive, multi‐objective, and compartmented Flux Balance Analysis for addressing tissue‐specific inborn errors of metabolism	5
Interplay between cardiolipin and plasmalogens in Barth syndrome	5
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	5
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients	5
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data	5
Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long‐chain fatty acid oxidation disorders: FDA approval summary	5
B‐complex vitamins for patients with TANGO2‐deficiency disorder	5
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome	5
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1	5
A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome	5
Validation of a targeted metabolomics panel for improved second‐tier newborn screening	5
The nucleotide prodrug CERC‐913 improves mtDNA content in primary hepatocytes from DGUOK‐deficient rats	5
Cognitive functioning and depressive symptoms in Fabry disease: A follow‐up study	5
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia	5
Mucopolysaccharidoses type I gene therapy	5
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	5
Neurologic outcome following liver transplantation for methylmalonic aciduria	5
How longitudinal observational studies can guide screening strategy for rare diseases	5
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines	5
Postauthorization safety study of betaine anhydrous	5
Genomic newborn screening: Are we entering a new era of screening?	5
Tryptophan metabolism in phenylketonuria: A French adult cohort study	5
Metabolic impact of pathogenic variants in the mitochondrial glutamyl‐tRNA synthetase EARS2	5
3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism	5
Gene therapy for urea cycle defects: An update from historical perspectives to future prospects	5
Cardiometabolic risk factor clustering in patients with deficient branched‐chain amino acid catabolism: A case‐control study	5
The role of orotic acid measurement in routine newborn screening for urea cycle disorders	5
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age	5
Regulatory news: Nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A: FDA approval summary	4
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders	4
EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms	4
Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures	4
Is SGSH heterozygosity a risk factor for early‐onset neurodegenerative disease?	4
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency	4
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients	4
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency	4
Mechano‐energetic aspects of Barth syndrome	4
N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts	4
Research priorities for mitochondrial disorders: Current landscape and patient and professional views	4
Evolution of adrenoleukodystrophy model systems	4
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria	4
Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency	4
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands	4
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study	4
No effect of resveratrol in patients with mitochondrial myopathy: A cross‐over randomized controlled trial	4
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up	4
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	4
Therapeutic potential of deuterium‐stabilized (R)‐pioglitazone—PXL065—for X‐linked adrenoleukodystrophy	4
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG	4
Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria	4
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency	4
Hearing loss in patients with mucopolysaccharidoses‐1 and ‐6 after hematopoietic cell transplantation: A longitudinal analysis	4
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry	4
CHIP control degradation of mutant ETF:QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency	3
Editorial: Mitochondrial medicine special issue	3
Ppt1‐deficiency dysregulates lysosomal Ca++ homeostasis contributing to pathogenesis in a mouse model of CLN1 disease	3
Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype‐specific: An investigator‐initiated, randomized, crossover study	3
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	3
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities	3
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy	3
Emerging roles of autophagy in hepatic tumorigenesis and therapeutic strategies in glycogen storage disease type Ia: A review	3
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency	3
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia	3
Hand fine motor control in classic galactosemia	3
Cellular and computational models reveal environmental and metabolic interactions in MMUT‐type methylmalonic aciduria	3
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency	3
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	3
A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling	3
Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy	3
Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships	3
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model	3