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239(top 5%)
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278
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citing journals

Top Articles

#TitleJournalYearCitations
1Clinical implementation of RNA sequencing for Mendelian disease diagnosticsGenome Medicine202285
2Arginine supplementation in four patients with X‐linked creatine transporter defectJournal of Inherited Metabolic Disease200847
3Newborn screening for homocystinurias: Recent recommendations versus current practiceJournal of Inherited Metabolic Disease201937
4Response to creatine analogs in fibroblasts and patients with creatine transporter deficiencyMolecular Genetics and Metabolism201027
5International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and managementJournal of Inherited Metabolic Disease202127
6Epilepsy spectrum in cerebral creatine transporter deficiencyEpilepsia200914
7An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutationsMolecular Genetics and Metabolism Reports202012
8Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress ResponseJournal of Clinical Medicine202011
9Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug DevelopmentJournal of Clinical Medicine202010
10Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/SerumJIMD Reports20161
11Newborn screening for homocystinurias: recent recommendations versus current practiceJournal of Inherited Metabolic Disease01
12Organic Acids20221