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2. Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. Issue 4 (11th September 2017)

4. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency. Issue 7 (3rd May 2021)

5. Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy. (September 2019)

7. Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients. Issue 3 (11th February 2019)

10. Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy. (5th July 2016)