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2. A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency. Issue 4 (12th April 2022)

3. Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy. Issue 12 (7th September 2022)

4. Clinical course of sly syndrome (mucopolysaccharidosis type VII). Issue 6 (23rd February 2016)

6. Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series. Issue 1 (5th May 2021)