Molecular Genetics and Metabolism

Article	Citations
miRNAs as cornerstones in diabetic microvascular complications	59
The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies	48
Clinical trials in mitochondrial disorders, an update	45
The natural history of neurocognition in MPS disorders: A review	45
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial	41
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	39
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience	39
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach	38
Disorders of purine biosynthesis metabolism	33
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades	33
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease	32
Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/α-ketoglutarate metabolism in mitochondrial disease	31
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment	30
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
Bloom syndrome and the underlying causes of genetic instability	28
Development of a neurologic severity scale for Aicardi Goutières Syndrome	27
Gaucher disease: Basic and translational science needs for more complete therapy and management	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
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females	27
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints	26
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes	26
Metabolomics in acute myeloid leukemia	24
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)	24
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges	24

The genetic basis of isolated mitochondrial complex II deficiency	24
Advances in glycosaminoglycan detection	24
Penetrance and predictive value of genetic screening in acute porphyria	23
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan	22
Assessing causal associations of obesity and diabetes with kidney stones using Mendelian randomization analysis	22
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX	21
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery	21
Current and potential new treatment strategies for creatine deficiency syndromes	21
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes	21
Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up	20
Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII	20
Nutrition status of adults with phenylketonuria treated with pegvaliase	20
Givosiran in acute intermittent porphyria: A personalized medicine approach	19
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York	19
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome	19
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders	18
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?	18
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	17
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease	17
MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations	17
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening	17
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience	17
Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome	17
Mitochondrial dysfunction caused by novel ATAD3A mutations	17
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I	17
Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease	16
Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations	16
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency	16
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy	16
Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis	16
Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses	16
US-FLI score – Is it possible to predict the steatosis grade with an ultrasonographic score?	15
Current advances in overcoming obstacles of CRISPR/Cas9 off-target genome editing	15
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	15
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	15
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers	15
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study	14
Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing	14
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations	14
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation	14
Palynziq clinic: One year and 43 patients later	14
Cardiac phenotype in propionic acidemia – Results of an observational monocentric study	14
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices	13
CPS1: Looking at an ancient enzyme in a modern light	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
Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma	13
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots	13
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients	12
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States	12
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis	12

Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued	12
Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry	12
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges	12
α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype	12
Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression	12
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin	12
Pathophysiology of long-term complications in classic galactosemia: What we do and do not know	12
Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism	12
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test	11
Patient-reported outcomes and quality of life in PMM2-CDG	11
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization	11
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1	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
Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs	11
Inter- and intra-tract analysis of white matter abnormalities in individuals with early-treated phenylketonuria (PKU)	11
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children	11
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy	11
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus	11
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)	11
Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD	11
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations	10
Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy	10
Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses	10
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders	10
Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia	10
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications	10
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency	10
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening	10
Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model	10
Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity	10
The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors	10
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins	10
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease	10
A systematic cross-sectional survey of multiple sulfatase deficiency	10
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies	10
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias	10
Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria	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
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA	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
Pegvaliase dosing in adults with PKU: Requisite dose for efficacy decreases over time	9
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource	9
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus	9
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)	9
Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies	9
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes	9
Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse	9
Enzyme replacement therapy for the treatment of Hunter disease: A systematic review with narrative synthesis and meta-analysis	9
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis	9
Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC	9
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency	9
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency	9
Hematologic abnormalities in Aicardi Goutières Syndrome	8
Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1	8
Biomarkers for liver disease in urea cycle disorders	8
Proteomics for the study of new biomarkers in Fabry disease: State of the art	8
Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study	8
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia	8
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype	8
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	8
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes	8
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis	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
Childhood-onset hereditary spastic paraplegia and its treatable mimics	8
Phenylketonuria and the brain	8
Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown	8
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition	8
The diagnostic challenge of mild citrulline elevation at newborn screening	8
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis	8
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse	8
Transient developmental delays in infants with Duarte-2 variant galactosemia	8
Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry	8
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes	8
Comparative metabolomics in the Pahenu2 classical PKU mouse identifies cerebral energy pathway disruption and oxidative stress	7
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome	7
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction	7
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review	7

The landscape of CRISPR/Cas9 for inborn errors of metabolism	7
Fibrillin-1 and asprosin, novel players in metabolic syndrome	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
Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis	7
The impact of metabolic control on cognition, neurophysiology, and well-being in PKU: A systematic review and meta-analysis of the within-participant literature	7
Neurological manifestations in mevalonate kinase deficiency: A systematic review	7
The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function	7
An expert consensus on the recommendations for the use of biomarkers in Fabry disease	7
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations	7
PKAN pathogenesis and treatment	7
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study	7
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease	7
Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia	7
Morquio B disease: From pathophysiology towards diagnosis	7
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach	7
The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion	7
Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model	7
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth	7
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II	7
MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment	7
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis	7
Therapies for Alzheimer’s disease: a metabolic perspective	7
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease	6
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry	6
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution	6
Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues	6
Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes	6
Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses	6
A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism	6
Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms	6
RNA solutions to treat inborn errors of metabolism	6
Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing	6
Genome-wide meta-analysis between renal overload type and renal underexcretion type of clinically defined gout in Japanese populations	6
Skeletal muscle specific mitochondrial dysfunction and altered energy metabolism in a murine model (oim/oim) of severe osteogenesis imperfecta	6
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	6
Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria	6
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis	6
Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria	6
Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes	6
Unraveling the mystery of Gaucher bone density pathophysiology	6
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency	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
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities	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
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis	6
Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease	6
Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria	6
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program	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
Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science	5
Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease	5
Detailed epitope mapping of neutralizing anti-drug antibodies against recombinant α-galactosidase A in patients with Fabry disease	5
Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease	5
Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder	5
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect	5
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course	5
Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia	5
Tristetraprolin: A cytosolic regulator of mRNA turnover moonlighting as transcriptional corepressor of gene expression	5
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency	5
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I	5
Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders	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
Laboratory monitoring of patients with hereditary tyrosinemia type I	5
Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review	5
Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C	5
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects	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
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants	5
Metabolic phenotyping in phenylketonuria reveals disease clustering independently of metabolic control	5
Analysis of exome-sequenced UK Biobank subjects implicates genes affecting risk of hyperlipidaemia	5
Achieving efficacy in subjects with sustained pegvaliase-neutralizing antibody responses	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
Neuropathology of murine Sanfilippo D syndrome	5
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients	5
Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity	5
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores	5
Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I	4
Casimersen treatment in eligible patients with Duchenne muscular dystrophy: safety, tolerability, and pharmacokinetics over 144 weeks of treatment	4
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases	4
Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria	4
Vosoritide for children with achondroplasia: a 60-month update from an ongoing phase 2 clinical trial	4
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation	4
The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I	4
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation	4
High-fat diet associated sensitization to metabolic stress in Wfs1 heterozygous mice	4
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I	4
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
Increasing precision in the measurement of change in pediatric neurodegenerative disease	4
Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2/ mouse model	4
Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications	4