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 2021-11-01 to 2025-11-01.)

Article	Citations
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	17
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report	17
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	16
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	15
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]	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	14
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia	12
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms	12
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations	12
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands	12
Complex response to physiological and drug-induced hepatic heme demand in monoallelic ALAS1 mice	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
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review	11
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models	11
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect	11
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease	10
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots	10
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype	9
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease	9
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	9
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase	8
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon	8
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction	8
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature	7
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature	7

Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates	7
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders	7
Newborn screening for spinal muscular atrophy in Japan: One year of experience	7
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy	7
Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology	7
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system	7
Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary	7
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study	6
The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia	6
Medication adherence in Fabry patients treated with migalastat: Real world experience	6
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency	6
The diagnostic journey for patients with late-onset GM2 Gangliosidoses	6
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study	6
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China	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
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease	6
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy	6
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings	6
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency	6
BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria	6
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
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening	5
Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy	5
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan	5
GBA1 variants in Brazilian Gaucher disease patients	5
Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights	5
Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype	5
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials	5
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots	5
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey	5
Hematopoietic cell transplantation for sialidosis type I	5
Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis	5
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family	5
Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report	5
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	5
A synonymous KCNJ11 variant leading to MODY13: A case report and literature review	5
Expression signature of the Leigh syndrome French-Canadian type	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	4
Association of ZBTB38 gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia	4
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation	4
LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations	4
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey	4
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study	4
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program	4
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran	4
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice	4
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience	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
Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses	4

A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre	4
Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan	4
Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes	4
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland	4
GNE myopathy with premature ovarian failure: Case report and review of the literature	4
The mutation spectrum and ethnic distribution of Wilson disease, a review	4
Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA	4
Corrigendum to “Long-term follow-up of renal function in patients treated with migalastat for Fabry disease” [Bichet et al., MGM Reports; 28 (2021) 100786]	4
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report	4
MPS VII – Extending the classical phenotype	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
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome	4
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	4
Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease	4
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty	4
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran	4
New mutations identified in a case of Glycogenin-1 deficiency	4
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation	3
Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study	3
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants	3
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico	3
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study	3
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience	3
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency	3
Corrigendum to “Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1”	3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease	3
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency	3
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?	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
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene	3
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene	3
Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]	3
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency	3
Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease	3
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study	3
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series	3
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1	3
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases	3
Valine metabolites analysis in ECHS1 deficiency	3
A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis	3
Natural history of propionic acidemia in the Amish population	3
Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al	3
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review	3
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada	3
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment	3
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme	3
Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants	3
A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	3
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening	3
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)	3
Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study	3
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype	3
Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation	3
Current status of surviving patients with arginase 1 deficiency in Japan	3
A survey on the patient journey in Fabry disease in Japan	3
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review	3
Navigating social determinants of health barriers in the management of phenylketonuria	3
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam	3
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa	3
An unusually mild case of biotin-thiamine-responsive basal ganglia disease	3