Molecular Genetics and Metabolism Reports

Article	Citations
Newborn screening for Fabry disease in the western region of Japan	27
The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome	22
Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS	22
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences	20
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience	19
Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)	18
Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation	18
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort	16
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database	15
Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls	15
Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course	14
Body fat percentage in adolescents with phenylketonuria and associated factors	13
First 1.5 years of pegvaliase clinic: Experiences and outcomes	13
Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10	13
SLC35A2-CDG: Novel variant and review	13
Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations	13
Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet	12
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease	11
Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients	11
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female	11
The PKU & ME study: A qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy	11
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease	11
Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort	11
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group	11
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency	11

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations	11
High frequency of biotinidase deficiency in Italian population identified by newborn screening	10
Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report	10
In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy	10
L-Fucose treatment of FUT8-CDG	10
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management	10
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy	10
Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II	10
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey	9
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options	9
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis	9
Expression analysis of genes involved in mitochondrial biogenesis in mice with MPTP-induced model of Parkinson's disease	9
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase	9
Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America	9
Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experie	8
Spinal cerebrotendinous xanthomatosis: A case report and literature review	8
Patients with Gaucher disease display systemic oxidative stress dependent on therapy status	8
Newborn screening for spinal muscular atrophy in Japan: One year of experience	8
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations	8
Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients	8
Newborn screening for Pompe disease in Italy: Long-term results and future challenges	8
Mtrr hypomorphic mutation alters liver morphology, metabolism and fuel storage in mice	8
Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency	7
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects	7
The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation	7
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1	7
Valine metabolites analysis in ECHS1 deficiency	7
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing	7
The juvenile gangliosidoses: A timeline of clinical change	7
Kidney and vascular function in adult patients with hereditary fructose intolerance	7
The effects of early-treated phenylketonuria on volumetric measures of the cerebellum	7
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy	7
Long-term outcome of patients with alpha-mannosidosis – A single center study	7
Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease	7
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population	7
Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire	7
PKU and COVID19: How the pandemic changed metabolic control	7
Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation	7
“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”	7
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency	7
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III	7
Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report	6
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort	6
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population	6
Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier	6
Adult GAMT deficiency: A literature review and report of two siblings	6
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair	6
The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation	6
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)	6
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency	6

Combined donor-recipient genotypes of leptin receptor and adiponectin gene polymorphisms affect the incidence of complications after renal transplantation	6
The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health rec	6
Aldolase A deficiency: Report of new cases and literature review	6
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype	6
False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight	6
Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?	6
Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C	6
In vivo biodistribution study of TAT-L-Sco2 fusion protein, developed as protein therapeutic for mitochondrial disorders attributed to SCO2 mutations	6
Creatine metabolism in patients with urea cycle disorders	6
Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa	6
Physical, cognitive, and social status of patients with urea cycle disorders in Japan	6
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece	6
Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation	6
Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients	6
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database	6
Targeted next generation sequencing for newborn screening of Menkes disease	6
Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function	6
Pharmacokinetics of oral l-serine supplementation in a single patient	5
Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I	5
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis	5
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia	5
Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats	5
Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine	5
Case report: ‘AARS2 leukodystrophy’	5
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy	5
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele	5
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene	5
Intra-operative kinetics of anti-HLA antibody in simultaneous liver-kidney transplantation	5
Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy	5
Liver involvement in patients with Gaucher disease types I and III	5
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism	5
Continuation of pegvaliase treatment during pregnancy: A case report	5
Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood	5
Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria	5
Generation of an in vitro model for peripheral neuropathy in Fabry disease using CRISPR-Cas9 in the nociceptive dorsal root ganglion cell line 50B11	5
Reduced macular thickness and macular vessel density in early-treated adult patients with PKU	5
Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay	5
Behavioral, social and school functioning in children with Pompe disease	5
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype	5
MAN1B1-CDG: Three new individuals and associated biochemical profiles	5
Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy	5
Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report	5
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients	5
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes	5
Prevalence of cerebral small vessel disease in a Fabry disease cohort	5
Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency	4
Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency	4
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects	4
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients	4
Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data	4
Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype	4
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C	4
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives	4
Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries	4
Molecular analysis of the human placental cysteine dioxygenase type 1 gene	4
Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome	4
Early clinical signs and treatment of Menkes disease	4
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers	4
Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs	4
Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?	4
Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary	4
Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation	4
The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease	4
Newborn screening for Gaucher disease in Japan	4
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa	4
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study	4
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study	4
Chitotriosidase as a biomarker for gangliosidoses	4
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology	4
Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis	4
Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat	4
Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers	4
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency	4
Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic	4
A new pathogenic POLG variant	4
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin	4
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response	4
Reduction of agalsidase beta infusion time in patients with fabry disease: A case series report and suggested protocol	4
Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition	4
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet	4

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	4
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients	3
Successful desensitization of Pegvaliase (Palynziq®) in a patient with phenylketonuria	3
Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease	3
Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report	3
Current status of surviving patients with arginase 1 deficiency in Japan	3
Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea	3
Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy	3
Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase	3
Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome	3
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature	3
A neuropathological cell model derived from Niemann−Pick disease type C patient-specific iPSCs shows disruption of the p62/SQSTM1−KEAP1−NRF2 Axis and impaired formation of neuronal networks	3
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism	3
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male	3
Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria	3
A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria	3
Surface plasmon resonance analysis of complex formation of therapeutic recombinant lysosomal enzymes with domain 9 of human cation-independent mannose 6-phosphate receptor	3
Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia	3
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency	3
A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis	3
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation	3
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials	3
A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase	3
Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome	3
Poly (A) tail length of human mitochondrial mRNAs is tissue-specific and a mutation in LRPPRC results in transcript-specific patterns of deadenylation	3
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography	3
Cardiovascular findings in classic homocystinuria	3
Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance	3
Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses	3
The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study	3
Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa	3
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb	3
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center	3
A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system	3
Treatment experience in two adults with creatinfe transporter deficiency	3
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Co	3
Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment	3
Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a	3
Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family	3
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics	3
Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias	3
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3	3
A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis	3
Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy	3
RANBP2 susceptibility to infection-induced encephalopathy: Clinicoradiologic and molecular description in a Malaysian family	3
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants	3
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity	3
Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation	3
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia	3
Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease	3
Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria	3
Molecular basis of ventricular arrhythmogenicity in a Pgc-1α deficient murine model	3
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica	3
“Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients”	3
Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease	2
Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres	2
Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy	2
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature	2
The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU	2
Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease	2
Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses	2
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders	2
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant	2
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases	2
Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1	2
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases	2
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy	2
Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome	2
Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder	2
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes	2
A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS	2
Understanding the impact of long-chain fatty acid oxidation disorders for patients and caregivers	2
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report	2
Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening	2
Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells	2
SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening	2
Natural history of propionic acidemia in the Amish population	2
A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I	2
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency	2
Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia	2
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio	2
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data	2
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype	2
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates	2
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation	2
Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy	2
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	2
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dy	2
Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias	2
Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease	2
Complex response to physiological and drug-induced hepatic heme demand in monoallelic ALAS1 mice	2
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes	2
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots	2
Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia	2
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant	2