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 2021-04-01 to 2025-04-01.)

Article	Citations
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations	18
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis	18
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus	16
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland	14
Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.	13
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	11
Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency	11
A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder	11
Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries	11
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response	10
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms	10
A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy	10
Creatine energy substrate increases bone density in the Pahenu2 classical PKU mouse in the context of phenylalanine restriction	10
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity	10
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey	9
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	9
Adiponectin overexpression improves metabolic abnormalities caused by acid ceramidase deficiency but does not prolong lifespan in a mouse model of Farber Disease	9
Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study	9
Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect	8
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene	8
An attenuated, adult case of AADC deficiency demonstrated by protein characterization	8
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report	8
Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report	8
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report	8
Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families	8

Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots	8
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report	7
Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis	7
Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?	7
Plasma arginine levels in arginase deficiency in the “real world”	7
Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells	7
New mutations identified in a case of Glycogenin-1 deficiency	7
Title Page	7
Cerebral folate deficiency: A report of two affected siblings	7
Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses	6
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series	6
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database	6
Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII	6
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	6
A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS	6
Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse	6
Successful pregnancy in a woman with glycogen storage disease type 6	6
Growth patterns in patients with mucopolysaccharidosis VII	6
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review	6
The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU	6
Aldolase A deficiency: Report of new cases and literature review	5
Case report: ‘AARS2 leukodystrophy’	5
Corrigendum to “ Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry” [32/100888 (2	5
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III	5
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C	5
Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases	5
The mutation spectrum and ethnic distribution of Wilson disease, a review	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	5
Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease	5
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders	5
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics	5
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	5
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	5
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]	5
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency	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
Oral health care knowledge among Phenylketonuria patients in the Latvian population	5
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect	4
Physical, cognitive, and social status of patients with urea cycle disorders in Japan	4
Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials	4
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases	4
Polycystic kidney disease complicates renal pathology in a family with Fabry disease	4
Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders	4
Current status of surviving patients with arginase 1 deficiency in Japan	4
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant	4
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature	4
Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series	4
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations	4
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam	4
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients	4

Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark	4
Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study	4
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases	4
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant	4
Newborn screening for Gaucher disease in Japan	4
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice	4
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia	4
The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease	4
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients	4
Newborn screening for Pompe disease in Italy: Long-term results and future challenges	4
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia	4
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome	4
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype	4
Natural history of propionic acidemia in the Amish population	4
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes	4
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options	4
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty	4
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran	4
Complex response to physiological and drug-induced hepatic heme demand in monoallelic ALAS1 mice	4
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data	3
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models	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
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease	3
Response to Letter to the Editor: Secondary ganglioside GM2 accumulation in mucopolysaccharidoses	3
New mutation in Fabry disease: c.448delG, first phenotypic description	3
Table of Contents	3
Schimke immuno-osseous dysplasia. A case report in Colombia	3
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene	3
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease	3
Cytochrome P450 genes expression in human prostate cancer	3
ScreenPlus: A comprehensive, multi-disorder newborn screening program	3
Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test	3
Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening	3
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations	3
Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses	3
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy	3
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era	3
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review	3
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3	3
Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population	3
Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth	3
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program	3
An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy	3
Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data	3
Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia	3
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency	3
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells	3
Classical homocystinuria, is it safe to exercise?	3
A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature	3
A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report	3
Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening	3
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation	3
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy	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