OOIR: Observatory of International Research

Papers

(The TQCC of Molecular Genetics and Metabolism Reports is 4. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-04-01 to 2024-04-01.)

Article	Citations
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences	20
Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)	18
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	18
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database	16
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort	16
Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course	15
Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls	15
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
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
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female	11
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease	11
In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy	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
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management	10
L-Fucose treatment of FUT8-CDG	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
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
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy	10
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
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
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
Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients	8
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects	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
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III	8
False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight	7
Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation	7
Long-term outcome of patients with alpha-mannosidosis – A single center study	7
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing	7
Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease	7
Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire	7
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	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
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy	7
Valine metabolites analysis in ECHS1 deficiency	7
Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa	7
Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency	7
Kidney and vascular function in adult patients with hereditary fructose intolerance	7
The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation	7
The effects of early-treated phenylketonuria on volumetric measures of the cerebellum	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
Physical, cognitive, and social status of patients with urea cycle disorders in Japan	7
The juvenile gangliosidoses: A timeline of clinical change	7
PKU and COVID19: How the pandemic changed metabolic control	7
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
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece	6
Adult GAMT deficiency: A literature review and report of two siblings	6
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia	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
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
Case report: ‘AARS2 leukodystrophy’	6
Generation of an in vitro model for peripheral neuropathy in Fabry disease using CRISPR-Cas9 in the nociceptive dorsal root ganglion cell line 50B11	6
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population	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
Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier	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
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype	6
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort	6
Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C	6
Reduced macular thickness and macular vessel density in early-treated adult patients with PKU	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
Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation	6
Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?	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
Combined donor-recipient genotypes of leptin receptor and adiponectin gene polymorphisms affect the incidence of complications after renal transplantation	6
Aldolase A deficiency: Report of new cases and literature review	6
Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria	5
Prevalence of cerebral small vessel disease in a Fabry disease cohort	5
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
MAN1B1-CDG: Three new individuals and associated biochemical profiles	5
Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine	5
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response	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
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes	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
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency	5
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism	5
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C	5
Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report	5
Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition	5
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy	5
Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis	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
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
Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy	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
Continuation of pegvaliase treatment during pregnancy: A case report	5
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives	4
Reduction of agalsidase beta infusion time in patients with fabry disease: A case series report and suggested protocol	4
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	4
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers	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
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects	4
Health economic burden of patients with phenylketonuria (PKU) – A retrospective study of German health insurance claims data	4
Newborn screening for Gaucher disease in Japan	4
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients	4
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study	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
Chitotriosidase as a biomarker for gangliosidoses	4
Early clinical signs and treatment of Menkes disease	4
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
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
A new pathogenic POLG variant	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
Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome	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
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet	4
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology	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
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients	4
Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic	4
Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype	4
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin	4