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citing journals

Top Articles

#TitleJournalYearCitations
1Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylationJournal of Inherited Metabolic Disease202040
2Comorbidities in childhood associated with extrauterine growth restriction in preterm infants: a scoping reviewEuropean Journal of Pediatrics202034
3Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosisEuropean Journal of Paediatric Neurology201529
4Relevance of urinary S100B protein levels as a short-term prognostic biomarker in asphyxiated infants treated with hypothermiaMedicine (United States)201724
5Molecular mechanisms of appetite and obesity: a role for brain AMPKClinical Science201618
6A selective screening program for the early detection of mucopolysaccharidosisMedicine (United States)201712
7Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access programMolecular Genetics and Metabolism Reports201810
8Proteomics in Inherited Metabolic DisordersInternational Journal of Molecular Sciences20227
9Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid MetabolismScientific Reports20196
10Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsAmerican Journal of Human Genetics20215
11Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBLGenes20202