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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Download from doi.orgClinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency
Download from www.zora.uzh.chAtypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
Download from europepmc.orgProposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Download from link.springer.comClinical presentation and outcome in a series of 88 patients with the cblC defect
UploadStereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders
Download from www.researchgate.netCross-sectional observational study of 208 patients with non-classical urea cycle disorders
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