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 2022-01-01 to 2026-01-01.)

Article	Citations
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report	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
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	17
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	16
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]	15
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	14
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms	13
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism	12
SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait	12
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease	11
Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome	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
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations	11
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models	10
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots	10
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect	8
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review	8
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction	7
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system	7
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype	7
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia	7
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase	7
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature	7
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands	7
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy	7

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
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease	7
Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology	6
Newborn screening for spinal muscular atrophy in Japan: One year of experience	6
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China	6
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates	6
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon	6
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency	6
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study	6
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy	6
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study	6
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease	5
The diagnostic journey for patients with late-onset GM2 Gangliosidoses	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
Medication adherence in Fabry patients treated with migalastat: Real world experience	5
BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria	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
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings	5
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency	5
Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis	5
The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia	5
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect	5
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey	4
Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report	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
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan	4
A synonymous KCNJ11 variant leading to MODY13: A case report and literature review	4
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	4
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland	4
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre	4
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome	4
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series	4
Shared decision making between patients with Fabry disease and physicians in Japan: An online survey	4
Hematopoietic cell transplantation for sialidosis type I	4
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots	4
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family	4
GBA1 variants in Brazilian Gaucher disease patients	4
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report	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
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation	4
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study	4
Association of ZBTB38 gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia	4
Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights	4
Expression signature of the Leigh syndrome French-Canadian type	4
MPS VII – Extending the classical phenotype	4
Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype	4
Psychosocial adaptation of children and adolescents with phenylketonuria in Korea	4
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening	4
LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations	4
Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document	4

Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease	4
Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes	4
GNE myopathy with premature ovarian failure: Case report and review of the literature	3
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran	3
Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan	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
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review	3
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa	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
A survey on the patient journey in Fabry disease in Japan	3
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases	3
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada	3
Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]	3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease	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
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype	3
Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female	3
Corrigendum to “Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1”	3
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran	3
The mutation spectrum and ethnic distribution of Wilson disease, a review	3
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience	3
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?	3
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1	3
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience	3
Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype–phenotype trends and novel GALNS variants	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
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme	3
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment	3
Natural history of propionic acidemia in the Amish population	3
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants	3
New mutations identified in a case of Glycogenin-1 deficiency	3
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study	3
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene	3
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study	3
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty	3
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey	3
Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA	3
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice	3
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency	3
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation	3
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)	3
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam	3
An unusually mild case of biotin-thiamine-responsive basal ganglia disease	3
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene	3
Navigating social determinants of health barriers in the management of phenylketonuria	3
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review	3
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program	3
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency	3