Molecular Genetics and Metabolism

Article	Citations
miRNAs as cornerstones in diabetic microvascular complications	63
The natural history of neurocognition in MPS disorders: A review	52
Disorders of purine biosynthesis metabolism	48
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease	43
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades	42
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment	38
Gaucher disease: Basic and translational science needs for more complete therapy and management	34
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?	33
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies	32
Bloom syndrome and the underlying causes of genetic instability	32
Current and potential new treatment strategies for creatine deficiency syndromes	31
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective	28
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes	27
Givosiran in acute intermittent porphyria: A personalized medicine approach	27
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan	26
Assessing causal associations of obesity and diabetes with kidney stones using Mendelian randomization analysis	26
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX	23
Nutrition status of adults with phenylketonuria treated with pegvaliase	22
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome	22
Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York	22
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery	22
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I	21
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	21
Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma	20
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience	20

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders	20
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	19
Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome	19
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study	19
MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations	19
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening	18
Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression	18
Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing	18
CPS1: Looking at an ancient enzyme in a modern light	18
Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease	18
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations	17
An expert consensus on the recommendations for the use of biomarkers in Fabry disease	17
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)	16
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource	16
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States	15
Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs	15
Pathophysiology of long-term complications in classic galactosemia: What we do and do not know	15
The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors	15
Palynziq clinic: One year and 43 patients later	15
Current advances in overcoming obstacles of CRISPR/Cas9 off-target genome editing	15
US-FLI score – Is it possible to predict the steatosis grade with an ultrasonographic score?	15
Patient-reported outcomes and quality of life in PMM2-CDG	15
Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry	15
Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids	14
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus	14
Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism	14
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin	14
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices	14
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation	14
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges	14
Phenylketonuria and the brain	14
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations	14
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children	13
Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy	13
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis	13
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test	13
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)	13
Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies	13
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease	12
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1	12
Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses	12
Two years of pegvaliase in Germany: Experiences and best practice recommendations	12
Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia	12
Inter- and intra-tract analysis of white matter abnormalities in individuals with early-treated phenylketonuria (PKU)	12
Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology	12
Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse	12
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy	12
Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation	12
Biotinidase deficiency: What have we learned in forty years?	12
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies	12

A novel small molecule approach for the treatment of propionic and methylmalonic acidemias	12
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA	12
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus	11
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins	11
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation	11
Hematologic abnormalities in Aicardi Goutières Syndrome	11
Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity	11
Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry	11
The impact of metabolic control on cognition, neurophysiology, and well-being in PKU: A systematic review and meta-analysis of the within-participant literature	11
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening	11
PKAN pathogenesis and treatment	11
Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study	11
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications	11
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)	11
Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model	11
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	10
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype	10
The diagnostic challenge of mild citrulline elevation at newborn screening	10
Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria	10
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency	10
Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy	10
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes	10
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders	10
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect	10
Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC	10
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community	10
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes	10
Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues	10
Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown	10
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis	9
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis	9
Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia	9
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome	9
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review	9
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation	9
Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients – A nationwide study of health insurance claims data	9
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study	9
Transient developmental delays in infants with Duarte-2 variant galactosemia	9
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis	9
Neurological manifestations in mevalonate kinase deficiency: A systematic review	9
Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease	9
The landscape of CRISPR/Cas9 for inborn errors of metabolism	9
Biomarkers for liver disease in urea cycle disorders	9
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis	9
Comparative metabolomics in the Pahenu2 classical PKU mouse identifies cerebral energy pathway disruption and oxidative stress	9
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia	9
Pegvaliase dosing in adults with PKU: Requisite dose for efficacy decreases over time	9
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution	9
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach	8
Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing	8
White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis	8
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease	8
Development and characterization of a mouse model for Acad9 deficiency	8
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction	8
Fibrillin-1 and asprosin, novel players in metabolic syndrome	8
Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1	8
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype	8
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse	8
Objective light exposure measurements and circadian rhythm in patients with erythropoietic protoporphyria: A case-control study	8
Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes	8
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry	8
Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II	8
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities	8
Childhood-onset hereditary spastic paraplegia and its treatable mimics	8
Proteomics for the study of new biomarkers in Fabry disease: State of the art	8
Morquio B disease: From pathophysiology towards diagnosis	8
The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations	7
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients	7
Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria	7
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth	7
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation	7
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency	7
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease	7
Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes	7
Therapies for Alzheimer’s disease: a metabolic perspective	7
Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review	7
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	7
RNA solutions to treat inborn errors of metabolism	7
Project “Backtoclinic I”: An overview on the state of care of adult PKU patients in Austria	7
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening	7

Metabolic phenotyping in phenylketonuria reveals disease clustering independently of metabolic control	7
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I	7
The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion	7
Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox	7
Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder	7
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	7
Unraveling the mystery of Gaucher bone density pathophysiology	7
Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations	7
A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss	7
Genome-wide meta-analysis between renal overload type and renal underexcretion type of clinically defined gout in Japanese populations	7
MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment	7
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis	6
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I	6
Increasing precision in the measurement of change in pediatric neurodegenerative disease	6
Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders	6
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA	6
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells	6
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects	6
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program	6
Skeletal muscle specific mitochondrial dysfunction and altered energy metabolism in a murine model (oim/oim) of severe osteogenesis imperfecta	6
Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains	6
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course	6
Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms	6
Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes	6
Achieving efficacy in subjects with sustained pegvaliase-neutralizing antibody responses	6
Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science	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
Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease	5
Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study	5
Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity	5
Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease	5
Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis	5
Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results	5
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches	5
The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I	5
High-fat diet associated sensitization to metabolic stress in Wfs1 heterozygous mice	5
Phenotypic changes in low-density lipoprotein particles as markers of adverse clinical outcomes in COVID-19	5
Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2/ mouse model	5
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation	5
Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency	5
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay	5
Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A	5
Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans	5
Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia	5
Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency	5
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG	5
Tristetraprolin: A cytosolic regulator of mRNA turnover moonlighting as transcriptional corepressor of gene expression	5
Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data	5
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency	5
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease	5
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants	5
Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances	5
Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity	5
Neuropathology of murine Sanfilippo D syndrome	5
Mitochondrial DNA maintenance defects: potential therapeutic strategies	5
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores	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
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop	5
Genetic counseling considerations in cerebral palsy	5
Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease	5
An orally administered enzyme therapeutic for homocystinuria that suppresses homocysteine by metabolizing methionine in the gastrointestinal tract	5
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity	5
Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias	5
WITHDRAWN: Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stress	4
In vitro activity of cysteamine against SARS-CoV-2 variants	4
The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system	4
Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies	4
Assessing the effects of PMM2 variants on protein stability	4
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria	4
Casimersen treatment in eligible patients with Duchenne muscular dystrophy: safety, tolerability, and pharmacokinetics over 144 weeks of treatment	4
Detection of early cardiac disease manifestation in propionic acidemia – Results of a monocentric cross-sectional study	4
Vosoritide for children with achondroplasia: a 60-month update from an ongoing phase 2 clinical trial	4
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases	4
Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemia	4
Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa	4
Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice	4
Updated results of Transpher B: multicenter, single-dose, phase 1/2 clinical trial of ABO-101 for Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)	4
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII	4
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias	4
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases	4
Natural history of Tay-Sachs disease in sheep	4
Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria	4
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1	4
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?	4
Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB	4
Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change ana	4
The relationship between metabolic control and basal ganglia morphometry and function in individuals with early-treated phenylketonuria	4
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature	4
Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I	4
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis	4
Plasma total GAA protein PK profiles differ between cipaglucosidase alfa/miglustat and alglucosidase alfa	4
Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk	4
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria	4
Relation between single nucleotide polymorphisms in circadian clock relevant genes and cholesterol metabolism	4
Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model	4