OOIR: Observatory of International Research

Papers

(The TQCC of Molecular Genetics and Metabolism Reports is 3. 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 2022-05-01 to 2026-05-01.)

Article	Citations
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report	22
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]	19
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	18
SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait	17
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism	16
Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome	15
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms	14
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	13
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography	12
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia	11
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations	11
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale	11
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	11
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect	9
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models	9
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots	9
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease	8
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review	8
Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD)	8
Galactose tolerance in adults with classical galactosaemia. Considering the gaps	8
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	7
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease	7
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype	7
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction	7
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands	7

Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system	6
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon	6
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China	6
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study	6
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature	6
Newborn screening for spinal muscular atrophy in Japan: One year of experience	6
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase	6
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy	6
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates	6
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency	6
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study	6
Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology	6
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency	5
Medication adherence in Fabry patients treated with migalastat: Real world experience	5
The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia	5
Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report	5
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots	5
The diagnostic journey for patients with late-onset GM2 Gangliosidoses	5
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease	5
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect	5
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	5
Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype	5
GBA1 variants in Brazilian Gaucher disease patients	5
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy	5
BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria	5
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings	5
MPS VII – Extending the classical phenotype	5
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family	5
Shared decision making between patients with Fabry disease and physicians in Japan: An online survey	5
The mutation spectrum and ethnic distribution of Wilson disease, a review	4
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty	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
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study	4
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	4
Association of ZBTB38 gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia	4
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	4
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey	4
Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy	4
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening	4
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre	4
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta	4
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice	4
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey	4
Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA	4
New mutations identified in a case of Glycogenin-1 deficiency	4
Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease	4
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience	4
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report	4
A synonymous KCNJ11 variant leading to MODY13: A case report and literature review	4
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome	4

Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights	4
Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes	4
Psychosocial adaptation of children and adolescents with phenylketonuria in Korea	4
Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document	4
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran	4
Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan	4
Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation	4
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland	4
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series	4
Intermittent ketogenic fasting with medium-chain triglycerides improves ataxia in COQ8A-related coenzyme Q10 deficiency: A case report	4
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan	4
Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report	4
Biochemical characterization of the FH variant p.Lys414Glu reveals loss of enzymatic function and disrupted multimerization	4
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation	4
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program	4
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico	3
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene	3
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases	3
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment	3
Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant	3
A survey on the patient journey in Fabry disease in Japan	3
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1	3
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype	3
Natural history of propionic acidemia in the Amish population	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
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?	3
Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]	3
A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	3
Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al	3
An unusually mild case of biotin-thiamine-responsive basal ganglia disease	3
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)	3
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants	3
Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute	3
First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity	3
Corrigendum to “Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1”	3
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review	3
GNE myopathy with premature ovarian failure: Case report and review of the literature	3
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran	3
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada	3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease	3
Serum hepcidin as a biomarker of treatment response in Gaucher disease	3
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening	3
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency	3
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme	3
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study	3
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency	3
Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype–phenotype trends and novel GALNS variants	3
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review	3
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency	3
Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female	3
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa	3
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene	3
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam	3
Navigating social determinants of health barriers in the management of phenylketonuria	3
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study	3