OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Inherited Metabolic Disease is 8. 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 2020-05-01 to 2024-05-01.)

Article	Citations
An international classification of inherited metabolic disorders (ICIMD)	150
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision	123
Opportunities and challenges for antisense oligonucleotide therapies	81
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients	59
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency	47
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network	45
Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study	42
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines	41
Moving towards clinical trials for mitochondrial diseases	41
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran	35
Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study	34
Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data	33
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease	33
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect	32
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management	30
Novel therapies for mucopolysaccharidosis type III	30
Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients	30
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise	27
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions	27
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut	26
Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment	26
Metabolic basis and treatment of citrin deficiency	26
Inborn disorders of the malate aspartate shuttle	25
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria	25
Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria	24

High dose genistein in Sanfilippo syndrome: A randomised controlled trial	24
Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome	24
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease	24
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms	24
Clinical presentation and natural history of Barth Syndrome: An overview	23
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease	23
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene	23
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision	22
Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry	22
AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case	22
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency	21
Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients	21
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques	21
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation	21
Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set	20
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis	20
Current progress with mammalian models of mitochondrial DNA disease	19
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata	19
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia	19
Biomarkers for drug development in propionic and methylmalonic acidemias	19
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria	18
Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease	18
Acute intermittent porphyria, givosiran, and homocysteine	18
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria	18
Long term outcome of MPI‐CDG patients on D‐mannose therapy	17
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia	17
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach	17
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5	17
Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan	17
Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	17
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients	17
Is the alpha‐galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review	16
GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes	16
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management	16
Deletion of 2‐aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1	16
Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study	16
Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells	15
Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles	15
Quantitative retrospective natural history modeling for orphan drug development	15
A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency	14
Current and future treatment approaches for Barth syndrome	14
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan	14
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism	14
Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid‐deficient mice	14
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies	14
Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders	14
In a mouse model of INCL reduced S‐palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation	14
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis	13
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study	13
Inherited disorders of complex lipid metabolism: A clinical review	13

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients	13
Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study	13
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein	13
Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan	12
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐	12
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature	12
ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes	12
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	12
A retrospective study of adult patients with noncirrhotic hyperammonemia	12
Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency	12
The potential of dietary treatment in patients with glycogen storage disease type IV	12
Genomic newborn screening: Are we entering a new era of screening?	11
The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery	11
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia	11
Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency	11
The mitochondria‐targeted hydrogen sulfide donor AP39 improves health and mitochondrial function in a C. elegans primary mitochondrial disease model	11
Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study	11
Developments in evidence creation for treatments of inborn errors of metabolism	11
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment	11
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells	11
Molybdenum cofactor deficiency: A natural history	11
Impaired Very‐Low‐Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia	11
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I	11
Advances in therapies for neurological lysosomal storage disorders	11
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects	10
Long‐chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy	10
Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes	10
CDG or not CDG	10
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia	10
A new D‐galactose treatment monitoring index for PGM1‐CDG	10
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency	10
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio	10
No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo‐controlled cross‐over study	10
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches	9
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	9
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia	9
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland	9
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net	9
OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort	9
A primer to gene therapy: Progress, prospects, and problems	9
Exploring genotype–phenotype correlations in glutaric aciduria type 1	9
Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome	9
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study	9
N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency	9
Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy	9
Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study	8
MPS I: Early diagnosis, bone disease and treatment, where are we now?	8
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding	8
B‐complex vitamins for patients with TANGO2‐deficiency disorder	8
Use of an adeno‐associated virus serotype Anc80 to provide durable cure of phenylketonuria in a mouse model	8
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	8
Creatine transport and pathological changes in creatine transporter deficient mice	8
Congenital disorders of glycosylation with defective fucosylation	8
Delineating the epilepsy phenotype of NGLY1 deficiency	8
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial	8
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1	8
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy	8
Detection of GM1‐gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry	8
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder	8
Experimental models of Barth syndrome	8
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency	8
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	8