OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Inherited Metabolic Disease is 7. 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 2020-11-01 to 2024-11-01.)

Article	Citations
An international classification of inherited metabolic disorders (ICIMD)	178
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision	146
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency	50
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines	46
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran	39
Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients	37
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision	36
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	34
Inborn disorders of the malate aspartate shuttle	33
Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria	29
Clinical presentation and natural history of Barth Syndrome: An overview	28
High dose genistein in Sanfilippo syndrome: A randomised controlled trial	26
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques	25
Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease	24
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis	23
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency	23
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria	22
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach	22
GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes	22
Biomarkers for drug development in propionic and methylmalonic acidemias	21
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5	21
Current progress with mammalian models of mitochondrialDNAdisease	21
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata	20
Current and future treatment approaches for Barth syndrome	20
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria	20

Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network	20
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan	19
Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan	19
Advances in therapies for neurological lysosomal storage disorders	19
Acute intermittent porphyria, givosiran, and homocysteine	19
In a mouse model of INCL reduced S‐palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation	18
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients	18
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management	18
Inherited disorders of complex lipid metabolism: A clinical review	17
Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells	17
Genomic newborn screening: Are we entering a new era of screening?	17
Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan	16
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells	16
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis	15
CDG or not CDG	15
Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study	15
Molybdenum cofactor deficiency: A natural history	15
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study	15
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism	14
Exploring genotype–phenotype correlations in glutaric aciduria type 1	14
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein	14
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients	14
B‐complex vitamins for patients with TANGO2‐deficiency disorder	13
Congenital disorders of glycosylation with defective fucosylation	13
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia	13
The potential of dietary treatment in patients with glycogen storage disease type IV	13
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio	13
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	13
Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome	13
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment	13
Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy	13
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study	12
ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes	12
OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort	12
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells	12
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	12
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy	12
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts	12
Long‐chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy	12
The mitochondria‐targeted hydrogen sulfide donor AP39 improves health and mitochondrial function in a C. elegans primary mitochondrial disease model	11
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency	11
The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery	11
A new D‐galactose treatment monitoring index for PGM1‐CDG	11
N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts	11
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism	11
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I	11
Experimental models of Barth syndrome	11
Impaired Very‐Low‐Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia	11
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia	11
Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency	11

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	11
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects	10
State‐of‐the‐art 2023 on gene therapy for phenylketonuria	10
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up	10
Use of an adeno‐associated virus serotype Anc80 to provide durable cure of phenylketonuria in a mouse model	10
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria	10
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	10
Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges	10
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways	10
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021	10
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial	9
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia	9
Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association	9
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1	9
Competitive, multi‐objective, and compartmented Flux Balance Analysis for addressing tissue‐specific inborn errors of metabolism	9
Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening	9
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency	9
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder	9
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome	9
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches	9
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study	9
How longitudinal observational studies can guide screening strategy for rare diseases	9
EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms	9
Delineating the epilepsy phenotype of NGLY1 deficiency	9
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency	9
Validation of a targeted metabolomics panel for improved second‐tier newborn screening	9
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia	9
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit	8
Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy	8
Genomic newborn screening: Proposal of a two‐stage approach	8
In vitro functional analysis of four variants of human asparagine synthetase	8
ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes	8
Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1^tm1Kds mice and X‐linked adrenoleukodystrophy patients	8
MPS I: Early diagnosis, bone disease and treatment, where are we now?	8
Neurologic outcome following liver transplantation for methylmalonic aciduria	8
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures	8
The role and control of arginine levels in arginase 1 deficiency	8
Gene therapy for glycogen storage diseases	8
Metabolic impact of pathogenic variants in the mitochondrial glutamyl‐tRNA synthetase EARS2	8
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples	8
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency	8
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children	8
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia	8
The complex machinery of human cobalamin metabolism	8
Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death	8
Long‐term functional correction of cystathionine β‐synthase deficiency in mice by adeno‐associated viral gene therapy	8
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency	8
Creatine transport and pathological changes in creatine transporter deficient mice	8
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding	8
Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa^−/− mice	7
Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty‐seven patients with alkaptonuria	7
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age	7
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up	7
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG	7
Interplay between cardiolipin and plasmalogens in Barth syndrome	7
The nucleotide prodrug CERC‐913 improves mtDNA content in primary hepatocytes from DGUOK‐deficient rats	7
Gene therapy for urea cycle defects: An update from historical perspectives to future prospects	7
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?	7
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1‐dependent epigenetic regulation of mTOR in cystathionine β‐synt	7
Regulatory news: Nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A: FDA approval summary	7
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience	7
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa	7
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening	7
Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium	7
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry	7
MOGS‐CDG: Quantitative analysis of the diagnostic Glc₃Man tetrasaccharide and clinical spectrum of six new cases	7
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil	7
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines	7
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings	7
Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias	7