Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient

Brain. 2022 Jun 3;145(5):e36-e40. doi: 10.1093/brain/awac065.

Joshua Manor^{1

2}, Daniel G Calame^{1

2

3}, Charul Gijavanekar¹, Alyssa Tran^{1

2}, Jawid M Fatih¹, Seema R Lalani^{1

2}, Elizabeth Mizerik^{1

2}, Mered Parnes^{2

3}, Vidya P Mehta⁴, Adekunle M Adesina⁴, James R Lupski^{1

2

5

6}, Fernando Scaglia^{1

2

7}, Sarah H Elsea¹

¹ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
² Texas Children's Hospital, Houston, TX, USA.
³ Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
⁴ Department of Pathology, Texas Children's Hospital, Houston, TX, USA.
⁵ Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
⁶ Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
⁷ Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Sha Tin, Hong Kong SAR.

No abstract available

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