Molecular Genetics and Metabolism

Article	Citations
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes	74
miRNAs as cornerstones in diabetic microvascular complications	57
Clinical trials in mitochondrial disorders, an update	44
The natural history of neurocognition in MPS disorders: A review	40
The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies	39
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial	38
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience	38
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study	37
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach	34
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades	33
Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/α-ketoglutarate metabolism in mitochondrial disease	31
Disorders of purine biosynthesis metabolism	31
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies	28
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective	28
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment	28
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females	27
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy	27
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-athe	27
Gaucher disease: Basic and translational science needs for more complete therapy and management	27
The Undiagnosed Diseases Network International: Five years and more!	24
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)	24
Development of a neurologic severity scale for Aicardi Goutières Syndrome	24
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints	24
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes	23
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges	23

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease	23
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease	23
The genetic basis of isolated mitochondrial complex II deficiency	22
Advances in glycosaminoglycan detection	22
Penetrance and predictive value of genetic screening in acute porphyria	21
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery	21
Metabolomics in acute myeloid leukemia	21
Nutrition status of adults with phenylketonuria treated with pegvaliase	20
Bloom syndrome and the underlying causes of genetic instability	20
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan	20
Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII	20
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up	20
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX	19
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York	19
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII	19
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes	18
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis	18
Assessing causal associations of obesity and diabetes with kidney stones using Mendelian randomization analysis	17
MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations	17
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease	17
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening	17
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?	17
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience	16
Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease	16
Givosiran in acute intermittent porphyria: A personalized medicine approach	16
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy	16
Current and potential new treatment strategies for creatine deficiency syndromes	16
Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis	16
Mitochondrial dysfunction caused by novel ATAD3A mutations	16
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I	16
Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome	16
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers	15
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome	15
Efficient engraftment of genetically modified cells is necessary to ameliorate central nervous system involvement of murine model of mucopolysaccharidosis type II by hematopoietic stem cell targeted g	15
US-FLI score – Is it possible to predict the steatosis grade with an ultrasonographic score?	15
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency	15
Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations	15
Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses	15
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations	14
Cardiac phenotype in propionic acidemia – Results of an observational monocentric study	14
Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects	14
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders	14
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics	14
Palynziq clinic: One year and 43 patients later	14
Current advances in overcoming obstacles of CRISPR/Cas9 off-target genome editing	13
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation	13
Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing	13
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway	13
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices	13
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots	13

Pathophysiology of long-term complications in classic galactosemia: What we do and do not know	12
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis	12
Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case	12
Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued	12
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients	11
Inter- and intra-tract analysis of white matter abnormalities in individuals with early-treated phenylketonuria (PKU)	11
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study	11
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement	11
Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression	11
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin	11
Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma	11
Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism	11
Impact of COVID-19 pandemic on patients with Fabry disease: An Italian experience	11
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)	11
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study	11
Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs	11
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1	11
α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype	11
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias	10
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States	10
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications	10
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease	10
Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy	10
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders	10
Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria	10
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening	10
Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD	10
Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model	10
CPS1: Looking at an ancient enzyme in a modern light	10
Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia	10
Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation	10
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation	10
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children	10
Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses	10
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus	9
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus	9
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency	9
Pegvaliase dosing in adults with PKU: Requisite dose for efficacy decreases over time	9
A systematic cross-sectional survey of multiple sulfatase deficiency	9
Enzyme replacement therapy for the treatment of Hunter disease: A systematic review with narrative synthesis and meta-analysis	9
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy	9
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis	9
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months	9
Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy	9
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency	9
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies	9
Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry	9
Patient-reported outcomes and quality of life in PMM2-CDG	9
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins	9
Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC	9
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations	9
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)	9
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA	9
Biomarkers for liver disease in urea cycle disorders	8
Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity	8
Childhood-onset hereditary spastic paraplegia and its treatable mimics	8
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia	8
Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown	8
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency	8
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource	8
Inuit metabolism revisited: what drove the selective sweep of CPT1a L479?	8
Proteomics for the study of new biomarkers in Fabry disease: State of the art	8
The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors	8
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization	8
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)	8
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test	8
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes	8
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis	8
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency	8
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges	8
Transient developmental delays in infants with Duarte-2 variant galactosemia	8
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes	8
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition	8
Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse	8
Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1	8
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review	7
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes	7
MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment	7
Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study	7
Phenylketonuria and the brain	7

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome	7
Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry	7
Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies	7
The diagnostic challenge of mild citrulline elevation at newborn screening	7
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study	7
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse	7
Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia	7
The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function	7
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach	7
Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency	7
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype	7
Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids	7
Therapies for Alzheimer’s disease: a metabolic perspective	7
Morquio B disease: From pathophysiology towards diagnosis	7
Neurological manifestations in mevalonate kinase deficiency: A systematic review	7
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction	6
Unraveling the mystery of Gaucher bone density pathophysiology	6
Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria	6
RNA solutions to treat inborn errors of metabolism	6
Genome-wide meta-analysis between renal overload type and renal underexcretion type of clinically defined gout in Japanese populations	6
A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss	6
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation	6
Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes	6
Does the 48-hour BH4 loading test miss responsive PKU patients?	6
Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?	6
Development and characterization of a mouse model for Acad9 deficiency	6
The impact of metabolic control on cognition, neurophysiology, and well-being in PKU: A systematic review and meta-analysis of the within-participant literature	6
Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model	6
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype	6
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth	6
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution	6
Effect of eliglustat on the pharmacokinetics of digoxin, metoprolol, and oral contraceptives and absorption of eliglustat when coadministered with acid-reducing agents	6
The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion	6
Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses	6
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis	6
Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes	6
Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms	6
Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease	6
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations	6
Hematologic abnormalities in Aicardi Goutières Syndrome	6
The landscape of CRISPR/Cas9 for inborn errors of metabolism	6
Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies	6
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis	6
Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria	6
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease	6
A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism	6
Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity	5
Comparative metabolomics in the Pahenu2 classical PKU mouse identifies cerebral energy pathway disruption and oxidative stress	5
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program	5
Metabolic phenotyping in phenylketonuria reveals disease clustering independently of metabolic control	5
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II	5
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening	5
PKAN pathogenesis and treatment	5
Evaluating the aortic stenosis phenotype before and after the effect of homogentisic acid lowering therapy: Analysis of a large cohort of eighty-one alkaptonuria patients	5
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis	5
Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease	5
Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C	5
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course	5
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature	5
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency	5
Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening	5
Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science	5
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I	5
Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease	5
Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias	5
Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity	5
Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review	5
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect	5
Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria	5
Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia	5
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency	5
Skeletal muscle specific mitochondrial dysfunction and altered energy metabolism in a murine model (oim/oim) of severe osteogenesis imperfecta	5
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease	5
Fibrillin-1 and asprosin, novel players in metabolic syndrome	5
Two years of pegvaliase in Germany: Experiences and best practice recommendations	5
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA	5
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients	5
Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pa	4
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores	4
Tristetraprolin: A cytosolic regulator of mRNA turnover moonlighting as transcriptional corepressor of gene expression	4
Analysis of exome-sequenced UK Biobank subjects implicates genes affecting risk of hyperlipidaemia	4
Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications	4
Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing	4
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis	4
The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I	4
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases	4
Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders	4
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants	4
Achieving efficacy in subjects with sustained pegvaliase-neutralizing antibody responses	4
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects	4
Casimersen treatment in eligible patients with Duchenne muscular dystrophy: safety, tolerability, and pharmacokinetics over 144 weeks of treatment	4
Increasing precision in the measurement of change in pediatric neurodegenerative disease	4
High-fat diet associated sensitization to metabolic stress in Wfs1 heterozygous mice	4
Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2/ mouse model	4
Vosoritide for children with achondroplasia: a 60-month update from an ongoing phase 2 clinical trial	4