Molecular Genetics and Metabolism Reports

Article	Citations
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations	18
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis	18
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus	16
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland	14
Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.	13
Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency	11
A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder	11
Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries	11
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia	11
A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy	10
Creatine energy substrate increases bone density in the Pahenu2 classical PKU mouse in the context of phenylalanine restriction	10
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity	10
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response	10
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms	10
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	9
Adiponectin overexpression improves metabolic abnormalities caused by acid ceramidase deficiency but does not prolong lifespan in a mouse model of Farber Disease	9
Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study	9
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey	9
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report	8
Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report	8
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report	8
Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families	8
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots	8
Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect	8
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene	8

An attenuated, adult case of AADC deficiency demonstrated by protein characterization	8
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report	7
Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis	7
Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?	7
Plasma arginine levels in arginase deficiency in the “real world”	7
Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells	7
New mutations identified in a case of Glycogenin-1 deficiency	7
Title Page	7
Cerebral folate deficiency: A report of two affected siblings	7
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	6
A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS	6
Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse	6
Successful pregnancy in a woman with glycogen storage disease type 6	6
Growth patterns in patients with mucopolysaccharidosis VII	6
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review	6
The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU	6
Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses	6
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series	6
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database	6
Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII	6
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C	5
Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases	5
The mutation spectrum and ethnic distribution of Wilson disease, a review	5
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism	5
Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease	5
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders	5
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics	5
Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials	5
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	5
Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4]	5
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency	5
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	5
Oral health care knowledge among Phenylketonuria patients in the Latvian population	5
Aldolase A deficiency: Report of new cases and literature review	5
Case report: ‘AARS2 leukodystrophy’	5
Corrigendum to “ Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry” [32/100888 (2	5
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III	5
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature	4
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations	4
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam	4
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients	4
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty	4
Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark	4
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran	4
Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study	4
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases	4
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant	4
Newborn screening for Gaucher disease in Japan	4
The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease	4
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients	4

Newborn screening for Pompe disease in Italy: Long-term results and future challenges	4
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant	4
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia	4
Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series	4
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome	4
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	4
Natural history of propionic acidemia in the Amish population	4
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes	4
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options	4
Complex response to physiological and drug-induced hepatic heme demand in monoallelic ALAS1 mice	4
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect	4
Physical, cognitive, and social status of patients with urea cycle disorders in Japan	4
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice	4
Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials	4
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia	4
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases	4
Polycystic kidney disease complicates renal pathology in a family with Fabry disease	4
Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders	4
Current status of surviving patients with arginase 1 deficiency in Japan	4
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	3
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells	3
Classical homocystinuria, is it safe to exercise?	3
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature	3
A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report	3
Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening	3
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation	3
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy	3
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta	3
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data	3
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models	3
The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening	3
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease	3
Response to Letter to the Editor: Secondary ganglioside GM2 accumulation in mucopolysaccharidoses	3
New mutation in Fabry disease: c.448delG, first phenotypic description	3
Table of Contents	3
Schimke immuno-osseous dysplasia. A case report in Colombia	3
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene	3
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease	3
Cytochrome P450 genes expression in human prostate cancer	3
ScreenPlus: A comprehensive, multi-disorder newborn screening program	3
Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test	3
Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening	3
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations	3
Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses	3
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy	3
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era	3
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review	3
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3	3
Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population	3
Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth	3
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program	3
An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy	3
Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data	3
Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia	3
Protective effects of alpha-lipoic acid on hair cell damage in diabetic zebrafish model	2
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction	2
Retraction notice to “Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study” [Molecular Genetics and Metabolism Reports 22 (2020) 100573].	2
Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents	2
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase	2
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study	2
The association between circulating phenylalanine and the temporal risk of impaired insulin markers in gestational diabetes mellitus	2
In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease	2
Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease	2
Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II	2
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype	2
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome	2
Carbamoly-phosphate synthetase 1 (CPS1) deficiency: A tertiary center retrospective cohort study and literature review	2
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease	2
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency	2
Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary	2
Accurate determination of Biotinidase activity in serum by HPLC and its utilization as second tier test for the confirmation of initial positive newborn screening results	2
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation	2
Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function	2
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?	2
Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency	2
An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency	2
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature	2
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands	2
Understanding the impact of long-chain fatty acid oxidation disorders for patients and caregivers	2
Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis	2

Navigating social determinants of health barriers in the management of phenylketonuria	2
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada	2
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver	2
Using artificial intelligence and promoter-level transcriptome analysis to identify a biomarker as a possible prognostic predictor of cardiac complications in male patients with Fabry disease	2
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review	2
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency	2
Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry	2
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants	2
Corrigendum to “Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa.” [Molecular Genetics and	2
Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review	2
The relationship between menstrual cycle characteristics, premenstrual syndrome prevalence and blood phenylalanine level in women with PKU	2
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review	2
Long-term safety of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: post-marketing extension surveillance in Japan	2
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia	2
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype	2
Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency	2
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography	2
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran	2
Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic	2
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots	2
A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis	2
Evaluating psychosocial stressors in families of children with inborn errors of metabolism	2
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review	2
A new pathogenic POLG variant	2
Title Page	2
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study	2
Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia	2
Newborn screening for spinal muscular atrophy in Japan: One year of experience	2
A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy — A case report	2
The role of native T1 values on the evaluation of cardiac manifestation in Japanese Fabry disease patients	2
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	2
MAN1B1-CDG: Three new individuals and associated biochemical profiles	2
Lipid nanoparticle delivers phenylalanine ammonia lyase mRNA to the liver leading to catabolism and clearance of phenylalanine in a phenylketonuria mouse model	2
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature	2
Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report	2
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency	2
Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHAD	2
A rare case of fructose-1, 6-bisphosphatase deficiency: Clinical features in a pediatric patient	2
Patient voices on PKU care: Insights from focus groups with current and former patients	2
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates	1
Dysregulated DNA methylation in the pathogenesis of Fabry disease	1
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency	1
Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature	1
Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier	1
A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis	1
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase	1
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency	1
Adult GAMT deficiency: A literature review and report of two siblings	1
Secondary ganglioside GM2 accumulation in mucopolysaccharidoses	1
Valine metabolites analysis in ECHS1 deficiency	1
The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency	1
Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data	1
Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs	1
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry	1
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency	1
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders	1
Creatine metabolism in patients with urea cycle disorders	1
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening	1
Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction and prevention of neurologic deficits in a mouse model of Hunter syndrome	1
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme	1
An unusually mild case of biotin-thiamine-responsive basal ganglia disease	1
The diagnostic journey for patients with late-onset GM2 Gangliosidoses	1
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy	1
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy	1
Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment	1
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China	1
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene	1
A case report of pregnancy in untreated alkaptonuria – Focus on urinary tissue remodelling markers	1
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1	1
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials	1
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data,	1
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings	1
A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis	1
Dental complications in homocystinurias	1
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report	1
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes	1
A survey on the patient journey in Fabry disease in Japan	1
Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome	1
Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA	1
Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia	1
BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria	1
Long-term outcome of patients with alpha-mannosidosis – A single center study	1
Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?	1
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa	1
“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”	1
Initiation of fluoxetine in a pediatric patient with Mucopolysaccharidosis IIIA: Early observations	1
A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy	1
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients	1
Serendipitous discovery of phenylketonuria in Iraq – How to identify and treat?	1
Translation of quality of life scale for pediatric patients with Fabry disease in Japan	1
Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation	1
Defective oligodendrocyte differentiation by hypomyelinating leukodystrophy 13 (HLD13)-associated mutation of Hikeshi	1
A different perspective into clinical symptoms in CPT I deficiency	1
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system	1
The role of genetic testing in suspected fulminant myocarditis: A case report	1