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 2022-08-01 to 2026-08-01.)

Article	Citations
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report	23
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism	19
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
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	18
Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome	18
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	16
SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait	14
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	14
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia	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	10
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
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
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations	7
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review	7
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease	7
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands	7
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease	7
Newborn screening for spinal muscular atrophy in Japan: One year of experience	6
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype	6
Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology	6
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature	6
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase	6

Medication adherence in Fabry patients treated with migalastat: Real world experience	6
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	6
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study	6
Propionic acidemia in Mexico: Clinical and genotypic spectrum	6
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study	6
The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia	6
Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis	6
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction	6
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
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease	6
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect	5
The diagnostic journey for patients with late-onset GM2 Gangliosidoses	5
Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns	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
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy	5
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency	5
MPS VII – Extending the classical phenotype	5
Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype	5
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China	5
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings	5
BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria	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
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency	5
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family	5
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study	4
Novel HCFC1 variants identified in patients with ASD/ADHD and previously unreported structural brain malformations reveal the potential for phenotypic expansion	4
Shared decision making between patients with Fabry disease and physicians in Japan: An online survey	4
Psychosocial adaptation of children and adolescents with phenylketonuria in Korea	4
Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights	4
Association of ZBTB38 gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia	4
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome	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
Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA	4
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience	4
Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document	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
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan	4
GBA1 variants in Brazilian Gaucher disease patients	4
A synonymous KCNJ11 variant leading to MODY13: A case report and literature review	4
Biochemical characterization of the FH variant p.Lys414Glu reveals loss of enzymatic function and disrupted multimerization	4
Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report	4
Intermittent ketogenic fasting with medium-chain triglycerides improves ataxia in COQ8A-related coenzyme Q10 deficiency: A case report	4
Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes	4
Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan	4
New mutations identified in a case of Glycogenin-1 deficiency	4
DGUOK-related mitochondrial DNA depletion syndrome presenting with neonatal cholestasis without marked hyperlactatemia: A diagnostic pitfall	4
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre	4
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report	4

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	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
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey	4
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series	4
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey	4
Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease	4
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland	4
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation	4
Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype–phenotype trends and novel GALNS variants	3
Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria	3
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene	3
Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase	3
Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report	3
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program	3
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice	3
GNE myopathy with premature ovarian failure: Case report and review of the literature	3
Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience	3
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review	3
First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity	3
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1	3
A survey on the patient journey in Fabry disease in Japan	3
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study	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
Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases	3
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran	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
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene	3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease	3
Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant	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
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review	3
Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]	3
Corrigendum to “Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1”	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
Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis	3
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran	3
Natural history of propionic acidemia in the Amish population	3
The mutation spectrum and ethnic distribution of Wilson disease, a review	3
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty	3
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency	3
Navigating social determinants of health barriers in the management of phenylketonuria	3