Molecular Genetics and Metabolism Reports

Article	Citations
SLC35A2-CDG: Novel variant and review	14
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options	13
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database	13
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease	13
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase	10
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects	10
L-Fucose treatment of FUT8-CDG	10
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease	10
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy	9
Newborn screening for Pompe disease in Italy: Long-term results and future challenges	9
High frequency of biotinidase deficiency in Italian population identified by newborn screening	9
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency	9
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy	9
In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy	9
Early clinical signs and treatment of Menkes disease	8
Long-term outcome of patients with alpha-mannosidosis – A single center study	8
Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients	8
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
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response	8
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis	8
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype	8
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III	8
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)	7
Physical, cognitive, and social status of patients with urea cycle disorders in Japan	7
The juvenile gangliosidoses: A timeline of clinical change	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
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management	7
Spinal cerebrotendinous xanthomatosis: A case report and literature review	7
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C	7
Generation of an in vitro model for peripheral neuropathy in Fabry disease using CRISPR-Cas9 in the nociceptive dorsal root ganglion cell line 50B11	7
The effects of early-treated phenylketonuria on volumetric measures of the cerebellum	7
Valine metabolites analysis in ECHS1 deficiency	7
Patients with Gaucher disease display systemic oxidative stress dependent on therapy status	7
Reduced macular thickness and macular vessel density in early-treated adult patients with PKU	7
Newborn screening for spinal muscular atrophy in Japan: One year of experience	7
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey	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
The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation	6
Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier	6
Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation	6
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia	6
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet	6
“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”	6
Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I	6
Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay	6
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia	6
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	6
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature	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
Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation	6
Adult GAMT deficiency: A literature review and report of two siblings	6
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing	6
Creatine metabolism in patients with urea cycle disorders	6
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients	6
Case report: ‘AARS2 leukodystrophy’	5
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort	5
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study	5
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	5
PKU and COVID19: How the pandemic changed metabolic control	5
Behavioral, social and school functioning in children with Pompe disease	5
Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function	5
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	5
The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease	5
Continuation of pegvaliase treatment during pregnancy: A case report	5
Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease	5
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair	5
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population	5
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene	5
Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency	5
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency	5
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations	5
Poly (A) tail length of human mitochondrial mRNAs is tissue-specific and a mutation in LRPPRC results in transcript-specific patterns of deadenylation	5
Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report	5
Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency	5
A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system	5

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?	5
Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis	5
Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data	5
Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy	5
Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs	4
Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy	4
Newborn screening for Gaucher disease in Japan	4
Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary	4
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature	4
Aldolase A deficiency: Report of new cases and literature review	4
Chitotriosidase as a biomarker for gangliosidoses	4
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes	4
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb	4
Expression signature of the Leigh syndrome French-Canadian type	4
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele	4
Intra-operative kinetics of anti-HLA antibody in simultaneous liver-kidney transplantation	4
Understanding the impact of long-chain fatty acid oxidation disorders for patients and caregivers	4
Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic	4
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism	4
A new pathogenic POLG variant	4
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	4
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	4
A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation	4
Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan	4
Molecular basis of ventricular arrhythmogenicity in a Pgc-1α deficient murine model	4
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	4
Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?	4
MAN1B1-CDG: Three new individuals and associated biochemical profiles	4
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects	4
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin	4
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives	4
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism	4
Reduction of agalsidase beta infusion time in patients with fabry disease: A case series report and suggested protocol	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
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy	4
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers	4
Prevalence of cerebral small vessel disease in a Fabry disease cohort	4
Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis	4
Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase	3
Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses	3
Maple syrup urine disease decompensation misdiagnosed as a psychotic event	3
The mutation spectrum and ethnic distribution of Wilson disease, a review	3
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease	3
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study	3
The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation	3
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia	3
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center	3
A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis	3
Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment	3
Combined donor-recipient genotypes of leptin receptor and adiponectin gene polymorphisms affect the incidence of complications after renal transplantation	3
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients	3
Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease	3
Natural history of propionic acidemia in the Amish population	3
Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria	3
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes	3
Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance	3
Current status of surviving patients with arginase 1 deficiency in Japan	3
Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C	3
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	3
Treatment experience in two adults with creatinfe transporter deficiency	3
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms	3
Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria	3
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?	3
The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU	3
Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a	3
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials	3
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	3
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation	3
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots	3
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
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants	3
Cardiovascular findings in classic homocystinuria	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
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3	3
Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria	3
Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition	3
Differences in faecal microbiome composition between adult patients with UCD and PKU and healthy control subjects	3
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity	3
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	3
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors	3

Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients	3
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature	3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease	3
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes	3
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada	3
Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease	3
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant	3